nsv7095666
- 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:678
- Description:NC_000019.9:g.(?_54626515)_(54627192_?)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: 78 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095666 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,123,136 | 54,123,813 |
| nsv7095666 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 97,628 | 98,305 |
| nsv7095666 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 97,628 | 98,305 |
| nsv7095666 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 97,628 | 98,305 |
| nsv7095666 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 97,628 | 98,305 |
| nsv7095666 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 97,628 | 98,305 |
| nsv7095666 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 97,628 | 98,305 |
| nsv7095666 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 97,628 | 98,305 |
| nsv7095666 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | First Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 97,628 | 98,305 |
| nsv7095666 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 97,628 | 98,305 |
| nsv7095666 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,626,515 | 54,627,192 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786790 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003119639.2, VCV002426201.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18786790 | Remapped | Perfect | NT_187693.1:g.(?_9 7628)_(98305_?)del | GRCh38.p12 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 97,628 | 98,305 |
| nssv18786790 | Remapped | Perfect | NW_003571061.2:g.( ?_97628)_(98305_?) del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 97,628 | 98,305 |
| nssv18786790 | Remapped | Perfect | NW_003571057.2:g.( ?_97628)_(98305_?) del | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 97,628 | 98,305 |
| nssv18786790 | Remapped | Perfect | NW_003571058.2:g.( ?_97628)_(98305_?) del | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 97,628 | 98,305 |
| nssv18786790 | Remapped | Perfect | NW_003571059.2:g.( ?_97628)_(98305_?) del | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 97,628 | 98,305 |
| nssv18786790 | Remapped | Perfect | NW_003571060.1:g.( ?_97628)_(98305_?) del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 97,628 | 98,305 |
| nssv18786790 | Remapped | Perfect | NW_003571056.2:g.( ?_97628)_(98305_?) del | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 97,628 | 98,305 |
| nssv18786790 | Remapped | Perfect | NW_003571055.2:g.( ?_97628)_(98305_?) del | GRCh38.p12 | First Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 97,628 | 98,305 |
| nssv18786790 | Remapped | Perfect | NW_003571054.1:g.( ?_97628)_(98305_?) del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 97,628 | 98,305 |
| nssv18786790 | Remapped | Perfect | NC_000019.10:g.(?_ 54123136)_(5412381 3_?)del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,123,136 | 54,123,813 |
| nssv18786790 | Submitted genomic | NC_000019.9:g.(?_5 4626515)_(54627192 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,626,515 | 54,627,192 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786790 | GRCh37: NC_000019.9:g.(?_54626515)_(54627192_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV003119639.2, VCV002426201.3 |