nsv4839968
- 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:247
- 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: 278 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 170 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 169 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 60 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4839968 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 7,793,845 | 7,794,091 |
| nsv4839968 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 14,713 | 14,959 |
| nsv4839968 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 14,713 | 14,959 |
| nsv4839968 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 7,815,392 | 7,815,638 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16356125 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16356125 | Remapped | Perfect | NT_187583.1:g.1471 3_14959del | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 14,713 | 14,959 |
| nssv16356125 | Remapped | Perfect | NW_011332695.1:g.1 4713_14959del | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 14,713 | 14,959 |
| nssv16356125 | Remapped | Perfect | NC_000011.10:g.779 3845_7794091del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 7,793,845 | 7,794,091 |
| nssv16356125 | Submitted genomic | NC_000011.9:g.7815 392_7815638del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 7,815,392 | 7,815,638 |
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) |
|---|---|---|---|
| nssv16356125 | <0.001 | 4 | 16482 |