nsv3922578
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:396,037
- Description:NCBI36/hg18 6p21.32(chr6:32564846-32856483)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 10274 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 1428 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 1519 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 1603 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 10275 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 1383 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 1801 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 1795 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 6017 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3922578 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,462,488 | 32,489,091 | 32,780,728 | 32,800,934 |
nsv3922578 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | - | 3,858,983 | 4,100,025 | 4,100,025 |
nsv3922578 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | - | 3,833,381 | 4,201,091 | 4,201,091 |
nsv3922578 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | - | 3,824,251 | 4,220,287 | 4,220,287 |
nsv3922578 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,430,265 | 32,456,868 | 32,748,505 | 32,768,711 |
nsv3922578 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | - | 3,864,568 | 4,105,610 | 4,105,610 |
nsv3922578 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | - | 3,832,679 | 4,200,389 | 4,200,389 |
nsv3922578 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_4 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | - | 3,829,871 | 4,225,907 | 4,225,907 |
nsv3922578 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 32,538,243 | 32,564,846 | 32,856,483 | 32,876,689 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15127069 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000450182.2, VCV000397768.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15127069 | Remapped | Pass | NT_167246.2:g.(?_3 824251)_(4220287_4 220287)del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | - | 3,824,251 | 4,220,287 | 4,220,287 |
nssv15127069 | Remapped | Pass | NT_167249.2:g.(?_3 833381)_(4201091_4 201091)del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | - | 3,833,381 | 4,201,091 | 4,201,091 |
nssv15127069 | Remapped | Pass | NT_167247.2:g.(?_3 858983)_(4100025_4 100025)del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | - | 3,858,983 | 4,100,025 | 4,100,025 |
nssv15127069 | Remapped | Perfect | NC_000006.12:g.(32 462488_32489091)_( 32780728_32800934) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,462,488 | 32,489,091 | 32,780,728 | 32,800,934 |
nssv15127069 | Remapped | Pass | NT_167246.1:g.(?_3 829871)_(4225907_4 225907)del | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | - | 3,829,871 | 4,225,907 | 4,225,907 |
nssv15127069 | Remapped | Pass | NT_167249.1:g.(?_3 832679)_(4200389_4 200389)del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | - | 3,832,679 | 4,200,389 | 4,200,389 |
nssv15127069 | Remapped | Pass | NT_167247.1:g.(?_3 864568)_(4105610_4 105610)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | - | 3,864,568 | 4,105,610 | 4,105,610 |
nssv15127069 | Remapped | Perfect | NC_000006.11:g.(32 430265_32456868)_( 32748505_32768711) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,430,265 | 32,456,868 | 32,748,505 | 32,768,711 |
nssv15127069 | Submitted genomic | NC_000006.10:g.(32 538243_32564846)_( 32856483_32876689) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,538,243 | 32,564,846 | 32,856,483 | 32,876,689 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15127069 | NCBI36: NC_000006.10:g.(32538243_32564846)_(32856483_32876689)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000450182.2, VCV000397768.2 | 1 |