nsv3921240
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:547,204
- Description:NCBI36/hg18 19p13.2(chr19:8049600-8534975)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2670 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 2670 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 591 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3921240 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 8,054,528 | 8,078,716 | 8,564,091 | 8,601,731 |
| nsv3921240 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 8,119,412 | 8,143,600 | 8,628,975 | 8,666,615 |
| nsv3921240 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 8,025,412 | 8,049,600 | 8,534,975 | 8,572,615 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15124210 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000450569.2, VCV000401536.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15124210 | Remapped | Perfect | NC_000019.10:g.(80 54528_8078716)_(85 64091_8601731)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 8,054,528 | 8,078,716 | 8,564,091 | 8,601,731 |
| nssv15124210 | Remapped | Perfect | NC_000019.9:g.(811 9412_8143600)_(862 8975_8666615)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 8,119,412 | 8,143,600 | 8,628,975 | 8,666,615 |
| nssv15124210 | Submitted genomic | NC_000019.8:g.(802 5412_8049600)_(853 4975_8572615)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 8,025,412 | 8,049,600 | 8,534,975 | 8,572,615 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15124210 | NCBI36: NC_000019.8:g.(8025412_8049600)_(8534975_8572615)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000450569.2, VCV000401536.2 | 3 |