nsv5009159
- 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:2,041
- 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: 188 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 188 SVs from 31 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5009159 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 89,849,592 (-72, +1) | 89,851,632 (-2, +95) | ||
nsv5009159 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 90,392,824 (-72, +1) | 90,394,864 (-2, +95) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16573112 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16573112 | Submitted genomic | NC_000015.10:g.(89 849520_89849593)_( 89851630_89851727) dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 89,849,592 (-72, +1) | 89,851,632 (-2, +95) | ||
nssv16573112 | Remapped | Perfect | NC_000015.9:g.(903 92752_90392825)_(9 0394862_90394959)d up | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 90,392,824 (-72, +1) | 90,394,864 (-2, +95) |
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) |
---|---|---|---|
nssv16573112 | <0.001 | 1 | 29246 |