nsv7095668
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:146
- Description:NC_000019.9:g.(?_54634718)_(54634863_?)del AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 79 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 55 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095668 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,131,287 | 54,131,432 |
| nsv7095668 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 105,831 | 105,976 |
| nsv7095668 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 105,831 | 105,976 |
| nsv7095668 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 105,831 | 105,976 |
| nsv7095668 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 105,831 | 105,976 |
| nsv7095668 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 105,831 | 105,976 |
| nsv7095668 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 105,831 | 105,976 |
| nsv7095668 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 105,831 | 105,976 |
| nsv7095668 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | First Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 105,831 | 105,976 |
| nsv7095668 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 105,831 | 105,976 |
| nsv7095668 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,634,718 | 54,634,863 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786782 | deletion | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV003119631.2, VCV002426193.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18786782 | Remapped | Perfect | NT_187693.1:g.(?_1 05831)_(105976_?)d el | GRCh38.p12 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 105,831 | 105,976 |
| nssv18786782 | Remapped | Perfect | NW_003571061.2:g.( ?_105831)_(105976_ ?)del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 105,831 | 105,976 |
| nssv18786782 | Remapped | Perfect | NW_003571057.2:g.( ?_105831)_(105976_ ?)del | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 105,831 | 105,976 |
| nssv18786782 | Remapped | Perfect | NW_003571058.2:g.( ?_105831)_(105976_ ?)del | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 105,831 | 105,976 |
| nssv18786782 | Remapped | Perfect | NW_003571059.2:g.( ?_105831)_(105976_ ?)del | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 105,831 | 105,976 |
| nssv18786782 | Remapped | Perfect | NW_003571060.1:g.( ?_105831)_(105976_ ?)del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 105,831 | 105,976 |
| nssv18786782 | Remapped | Perfect | NW_003571056.2:g.( ?_105831)_(105976_ ?)del | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 105,831 | 105,976 |
| nssv18786782 | Remapped | Perfect | NW_003571055.2:g.( ?_105831)_(105976_ ?)del | GRCh38.p12 | First Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 105,831 | 105,976 |
| nssv18786782 | Remapped | Perfect | NW_003571054.1:g.( ?_105831)_(105976_ ?)del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 105,831 | 105,976 |
| nssv18786782 | Remapped | Perfect | NC_000019.10:g.(?_ 54131287)_(5413143 2_?)del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,131,287 | 54,131,432 |
| nssv18786782 | Submitted genomic | NC_000019.9:g.(?_5 4634718)_(54634863 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,634,718 | 54,634,863 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786782 | GRCh37: NC_000019.9:g.(?_54634718)_(54634863_?)del | deletion | germline | not provided | Likely pathogenic | ClinVar | RCV003119631.2, VCV002426193.3 |