nsv4916590
- 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:3,734
- 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: 123 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 27 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4916590 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 210,047,199 (-1, +57) | 210,050,932 (-58, +3) | ||
nsv4916590 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 210,911,923 (-1, +57) | 210,915,656 (-58, +3) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16440608 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16440608 | Submitted genomic | NC_000002.12:g.(21 0047198_210047256) _(210050874_210050 935)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 210,047,199 (-1, +57) | 210,050,932 (-58, +3) | ||
nssv16440608 | Remapped | Perfect | NC_000002.11:g.(21 0911922_210911980) _(210915598_210915 659)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 210,911,923 (-1, +57) | 210,915,656 (-58, +3) |
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) |
---|---|---|---|
nssv16440608 | <0.001 | 1 | 29246 |