nsv4781132
- 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:4,818
- 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: 209 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 211 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4781132 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 113,005,238 (-74, +2) | 113,010,055 (-2, +55) |
| nsv4781132 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646196.1 | Chr1|NW_00 9646196.1 | 97,654 (-74, +2) | 102,471 (-2, +55) |
| nsv4781132 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 113,547,860 (-74, +2) | 113,552,677 (-2, +55) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16383350 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16383350 | Remapped | Perfect | NW_009646196.1:g.( 97580_97656)_(1024 69_102526)dup | GRCh38.p12 | Second Pass | NW_009646196.1 | Chr1|NW_00 9646196.1 | 97,654 (-74, +2) | 102,471 (-2, +55) |
| nssv16383350 | Remapped | Perfect | NC_000001.11:g.(11 3005164_113005240) _(113010053_113010 110)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 113,005,238 (-74, +2) | 113,010,055 (-2, +55) |
| nssv16383350 | Submitted genomic | NC_000001.10:g.(11 3547786_113547862) _(113552675_113552 732)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 113,547,860 (-74, +2) | 113,552,677 (-2, +55) |
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) |
|---|---|---|---|
| nssv16383350 | <0.001 | 1 | 16834 |