nsv4980331
- 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:1,222
- 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: 126 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4980331 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 102,325,734 | 102,326,955 | ||
nsv4980331 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 102,196,465 | 102,197,686 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16529449 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16529449 | Submitted genomic | NC_000011.10:g.102 325734_102326955de l | GRCh38 (hg38) | NC_000011.10 | Chr11 | 102,325,734 | 102,326,955 | ||
nssv16529449 | Remapped | Perfect | NC_000011.9:g.1021 96465_102197686del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 102,196,465 | 102,197,686 |
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) |
---|---|---|---|
nssv16529449 | <0.001 | 1 | 29246 |