nsv4833972
- 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:727
- 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: 157 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 66 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 66 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 157 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4833972 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 7,818,258 | 7,818,984 |
| nsv4833972 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 39,126 | 39,852 |
| nsv4833972 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 49,249 | 49,975 |
| nsv4833972 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 7,839,805 | 7,840,531 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16356126 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16356126 | Remapped | Perfect | NT_187583.1:g.3912 6_39852del | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 39,126 | 39,852 |
| nssv16356126 | Remapped | Perfect | NW_011332695.1:g.4 9249_49975del | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 49,249 | 49,975 |
| nssv16356126 | Remapped | Perfect | NC_000011.10:g.781 8258_7818984del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 7,818,258 | 7,818,984 |
| nssv16356126 | Submitted genomic | NC_000011.9:g.7839 805_7840531del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 7,839,805 | 7,840,531 |
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) |
|---|---|---|---|
| nssv16356126 | <0.001 | 1 | 16834 |