nsv4679039
- Organism: Homo sapiens
- Study:nstd189 (Perez-Palma et al. 2020)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:123,117
- Publication(s):Pérez-Palma 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: 1697 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 1586 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 788 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 431 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1523 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1636 SVs from 94 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4679039 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,221,505 | 54,337,222 |
| nsv4679039 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 196,491 | 319,607 |
| nsv4679039 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 213,634 | 318,723 |
| nsv4679039 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 256,634 | 318,569 |
| nsv4679039 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 196,305 | 309,793 |
| nsv4679039 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000019.9 | Chr19 | 54,725,377 | 54,848,493 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16210999 | duplication | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16210999 | Remapped | Perfect | NT_187693.1:g.(?_1 96491)_(319607_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 196,491 | 319,607 |
| nssv16210999 | Remapped | Pass | NW_003571061.2:g.( ?_213634)_(318723_ ?)dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 213,634 | 318,723 |
| nssv16210999 | Remapped | Pass | NW_003571055.2:g.( ?_256634)_(318569_ ?)dup | GRCh38.p12 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 256,634 | 318,569 |
| nssv16210999 | Remapped | Pass | NW_003571054.1:g.( ?_196305)_(309793_ ?)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 196,305 | 309,793 |
| nssv16210999 | Remapped | Pass | NC_000019.10:g.(?_ 54221505)_(5433722 2_?)dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,221,505 | 54,337,222 |
| nssv16210999 | Submitted genomic | NC_000019.9:g.(?_5 4725377)_(54848493 _?)dup | GRCh37.p13 | NC_000019.9 | Chr19 | 54,725,377 | 54,848,493 |
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) |
|---|---|
| nssv16210999 | 0.001 |