nsv5008394
- 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:10,547
- 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 29 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 29 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5008394 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 57,369,257 (-1, +1) | 57,379,803 (-1) | ||
nsv5008394 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 57,403,169 (-1, +1) | 57,413,715 (-1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16561552 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16561552 | Submitted genomic | NC_000016.10:g.(57 369256_57369258)_( 57379802_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 57,369,257 (-1, +1) | 57,379,803 (-1) | ||
nssv16561552 | Remapped | Perfect | NC_000016.9:g.(574 03168_57403170)_(5 7413714_?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 57,403,169 (-1, +1) | 57,413,715 (-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) |
---|---|---|---|
nssv16561552 | <0.001 | 1 | 29246 |