nsv4647795
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,001
- Description:nsv4051351 from gnomAD Structural Variants. For a full list of variants now included in nstd186, refer to the mapping file provided here.
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 323 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 328 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4647795 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 28,567,854 | 28,574,854 |
| nsv4647795 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 843,645 | 850,645 |
| nsv4647795 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315943.1 | Chr15|NW_0 03315943.1 | 267,434 | 274,434 |
| nsv4647795 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 729,859 | 736,859 |
| nsv4647795 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 28,813,000 | 28,820,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16171043 | copy number variation | Curated | Curated |
| nssv16171439 | copy number variation | Curated | Curated |
| nssv16174192 | copy number variation | Curated | Curated |
| nssv16178011 | copy number variation | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16171043 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 843,645 | 850,645 |
| nssv16171439 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 843,645 | 850,645 |
| nssv16174192 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 843,645 | 850,645 |
| nssv16178011 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 843,645 | 850,645 |
| nssv16171043 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_003315943.1 | Chr15|NW_0 03315943.1 | 267,434 | 274,434 |
| nssv16171439 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_003315943.1 | Chr15|NW_0 03315943.1 | 267,434 | 274,434 |
| nssv16174192 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_003315943.1 | Chr15|NW_0 03315943.1 | 267,434 | 274,434 |
| nssv16178011 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_003315943.1 | Chr15|NW_0 03315943.1 | 267,434 | 274,434 |
| nssv16171043 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 729,859 | 736,859 |
| nssv16171439 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 729,859 | 736,859 |
| nssv16174192 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 729,859 | 736,859 |
| nssv16178011 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 729,859 | 736,859 |
| nssv16171043 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 28,567,854 | 28,574,854 |
| nssv16171439 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 28,567,854 | 28,574,854 |
| nssv16174192 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 28,567,854 | 28,574,854 |
| nssv16178011 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 28,567,854 | 28,574,854 |
| nssv16171043 | Submitted genomic | GRCh37 (hg19) | NC_000015.9 | Chr15 | 28,813,000 | 28,820,000 | ||
| nssv16171439 | Submitted genomic | GRCh37 (hg19) | NC_000015.9 | Chr15 | 28,813,000 | 28,820,000 | ||
| nssv16174192 | Submitted genomic | GRCh37 (hg19) | NC_000015.9 | Chr15 | 28,813,000 | 28,820,000 | ||
| nssv16178011 | Submitted genomic | GRCh37 (hg19) | NC_000015.9 | Chr15 | 28,813,000 | 28,820,000 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16171043 | 0.109 | 1179 | 10847 |
| nssv16171439 | 0.011 | 123 | 10847 |
| nssv16174192 | 0.168 | 1820 | 10847 |
| nssv16178011 | 0.712 | 7725 | 10847 |