nsv4640234
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:208,551
- Description:nsv4038226 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: 427 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 428 SVs from 27 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4640234 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 25,722,103 | 25,930,653 |
nsv4640234 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 27,868,250 | 28,076,800 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16157288 | duplication | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16157288 | Remapped | Perfect | NC_000024.10:g.257 22103_25930653dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 25,722,103 | 25,930,653 |
nssv16157288 | Submitted genomic | NC_000024.9:g.2786 8250_28076800dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 27,868,250 | 28,076,800 |
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) |
---|---|---|---|
nssv16157288 | 0.026 | 137 | 5319 |