nsv4902832
- 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:1,289,066
- 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: 1040 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 1041 SVs from 56 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4902832 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000024.10 | ChrY | 5,818,607 (-30, +97) | 7,107,672 (-164, +29) | ||
nsv4902832 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000024.9 | ChrY | 5,686,648 (-30, +97) | 6,975,713 (-164, +29) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16590016 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16590016 | Submitted genomic | NC_000024.10:g.(58 18577_5818704)_(71 07508_7107701)del | GRCh38 (hg38) | NC_000024.10 | ChrY | 5,818,607 (-30, +97) | 7,107,672 (-164, +29) | ||
nssv16590016 | Remapped | Perfect | NC_000024.9:g.(568 6618_5686745)_(697 5549_6975742)del | GRCh37.p13 | First Pass | NC_000024.9 | ChrY | 5,686,648 (-30, +97) | 6,975,713 (-164, +29) |
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) |
---|---|---|---|
nssv16590016 | <0.001 | 2 | 15746 |