nsv4835607
- 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:2,505
- 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: 135 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4835607 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 117,309,992 (-30, +51) | 117,312,496 (-36, +30) |
nsv4835607 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 117,180,708 (-30, +51) | 117,183,212 (-36, +30) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16340676 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16340676 | Remapped | Perfect | NC_000011.10:g.(11 7309962_117310043) _(117312460_117312 526)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 117,309,992 (-30, +51) | 117,312,496 (-36, +30) |
nssv16340676 | Submitted genomic | NC_000011.9:g.(117 180678_117180759)_ (117183176_1171832 42)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 117,180,708 (-30, +51) | 117,183,212 (-36, +30) |
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) |
---|---|---|---|
nssv16340676 | <0.001 | 4 | 16834 |