nsv5015696
- 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:9,216
- 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: 166 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5015696 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 6,745,004 (-2, +83) | 6,754,219 (-120) | ||
nsv5015696 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 6,648,323 (-2, +83) | 6,657,538 (-120) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16563774 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16563774 | Submitted genomic | NC_000017.11:g.(67 45002_6745087)_(67 54099_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 6,745,004 (-2, +83) | 6,754,219 (-120) | ||
nssv16563774 | Remapped | Perfect | NC_000017.10:g.(66 48321_6648406)_(66 57418_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 6,648,323 (-2, +83) | 6,657,538 (-120) |
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) |
---|---|---|---|
nssv16563774 | <0.001 | 1 | 29246 |