nsv4831133
- 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:6,304
- 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: 77 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 24 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4831133 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 59,510,405 (-1, +55) | 59,516,708 (-64, +2) |
nsv4831133 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 59,277,878 (-1, +55) | 59,284,181 (-64, +2) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16337736 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16337736 | Remapped | Perfect | NC_000011.10:g.(59 510404_59510460)_( 59516644_59516710) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 59,510,405 (-1, +55) | 59,516,708 (-64, +2) |
nssv16337736 | Submitted genomic | NC_000011.9:g.(592 77877_59277933)_(5 9284117_59284183)d el | GRCh37 (hg19) | NC_000011.9 | Chr11 | 59,277,878 (-1, +55) | 59,284,181 (-64, +2) |
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) |
---|---|---|---|
nssv16337736 | <0.001 | 1 | 16834 |