nsv4915301
- 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:4,104
- 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: 128 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 23 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4915301 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 121,250,697 (-40, +40) | 121,254,800 (-77, +29) | ||
nsv4915301 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 122,008,273 (-40, +40) | 122,012,376 (-77, +29) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16433126 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16433126 | Submitted genomic | NC_000002.12:g.(12 1250657_121250737) _(121254723_121254 829)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 121,250,697 (-40, +40) | 121,254,800 (-77, +29) | ||
nssv16433126 | Remapped | Perfect | NC_000002.11:g.(12 2008233_122008313) _(122012299_122012 405)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 122,008,273 (-40, +40) | 122,012,376 (-77, +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) |
---|---|---|---|
nssv16433126 | <0.001 | 1 | 29246 |