nsv4995700
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,609
- Publication(s):Abel et al. 2020
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: 112 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 33 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4995700 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 113,363,336 (-1, +1) | 113,369,944 (-1) | ||
nsv4995700 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 113,801,141 (-1, +1) | 113,807,749 (-1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16539218 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16539218 | Submitted genomic | NC_000012.12:g.(11 3363335_113363337) _(113369943_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 113,363,336 (-1, +1) | 113,369,944 (-1) | ||
nssv16539218 | Remapped | Perfect | NC_000012.11:g.(11 3801140_113801142) _(113807748_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 113,801,141 (-1, +1) | 113,807,749 (-1) |
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) |
---|---|---|---|
nssv16539218 | <0.001 | 1 | 29246 |