nsv4985634
- 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:3,490
- 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 30 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4985634 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 55,775,348 (-38, +3) | 55,778,837 (-2, +54) | ||
nsv4985634 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 56,169,132 (-38, +3) | 56,172,621 (-2, +54) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16552848 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16552848 | Submitted genomic | NC_000012.12:g.(55 775310_55775351)_( 55778835_55778891) dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 55,775,348 (-38, +3) | 55,778,837 (-2, +54) | ||
nssv16552848 | Remapped | Perfect | NC_000012.11:g.(56 169094_56169135)_( 56172619_56172675) dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 56,169,132 (-38, +3) | 56,172,621 (-2, +54) |
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) |
---|---|---|---|
nssv16552848 | <0.001 | 1 | 29246 |