nsv4780171
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,027
- 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: 440 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 437 SVs from 34 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4780171 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 118,779,126 (+61) | 118,787,152 (-99, +1) |
nsv4780171 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 117,913,089 (+61) | 117,921,115 (-99, +1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16382998 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16382998 | Remapped | Perfect | NC_000023.11:g.(?_ 118779187)_(118787 053_118787153)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 118,779,126 (+61) | 118,787,152 (-99, +1) |
nssv16382998 | Submitted genomic | NC_000023.10:g.(?_ 117913150)_(117921 016_117921116)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 117,913,089 (+61) | 117,921,115 (-99, +1) |
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) |
---|---|---|---|
nssv16382998 | <0.001 | 1 | 16834 |