nsv4905098
- 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:535,524
- 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: 2242 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 2117 SVs from 58 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4905098 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 1,908,240 (-188, +29) | 2,443,763 (-30, +100) | ||
nsv4905098 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 2,027,133 (-188, +29) | 2,361,804 (-30, +100) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16594177 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16594177 | Submitted genomic | NC_000023.11:g.(19 08052_1908269)_(24 43733_2443863)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 1,908,240 (-188, +29) | 2,443,763 (-30, +100) | ||
nssv16594177 | Remapped | Pass | NC_000023.10:g.(20 26945_2027162)_(23 61774_2361904)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 2,027,133 (-188, +29) | 2,361,804 (-30, +100) |
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) |
---|---|---|---|
nssv16594177 | <0.001 | 1 | 29246 |