nsv508358
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Publication(s):Teague et al. 2010
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: 201 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 201 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 3 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv508358 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 58,377,403 | 58,413,857 |
nsv508358 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 57,673,230 | 57,709,684 |
nsv508358 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 57,708,987 | 57,745,441 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|---|---|
nssv617511 | deletion | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
nssv618767 | deletion | GM10860 | Optical mapping | Optical mapping | 1,998 | |||
nssv619956 | deletion | GM15510 | Optical mapping | Optical mapping | 1,740 | |||
nssv622522 | deletion | GM18994 | Optical mapping | Optical mapping | 1,936 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv617511 | Remapped | Perfect | NC_000005.10:g.(58 377403_?)_(?_58413 857)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 58,377,403 | 58,413,857 |
nssv618767 | Remapped | Perfect | NC_000005.10:g.(58 377403_?)_(?_58413 857)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 58,377,403 | 58,413,857 |
nssv619956 | Remapped | Perfect | NC_000005.10:g.(58 377403_?)_(?_58413 857)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 58,377,403 | 58,413,857 |
nssv622522 | Remapped | Perfect | NC_000005.10:g.(58 377403_?)_(?_58413 857)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 58,377,403 | 58,413,857 |
nssv617511 | Remapped | Perfect | NC_000005.9:g.(576 73230_?)_(?_577096 84)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 57,673,230 | 57,709,684 |
nssv618767 | Remapped | Perfect | NC_000005.9:g.(576 73230_?)_(?_577096 84)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 57,673,230 | 57,709,684 |
nssv619956 | Remapped | Perfect | NC_000005.9:g.(576 73230_?)_(?_577096 84)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 57,673,230 | 57,709,684 |
nssv622522 | Remapped | Perfect | NC_000005.9:g.(576 73230_?)_(?_577096 84)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 57,673,230 | 57,709,684 |
nssv617511 | Submitted genomic | NC_000005.8:g.(577 08987_?)_(?_577454 41)del5713 | NCBI35 (hg17) | NC_000005.8 | Chr5 | 57,708,987 | 57,745,441 | ||
nssv618767 | Submitted genomic | NC_000005.8:g.(577 08987_?)_(?_577454 41)del3857 | NCBI35 (hg17) | NC_000005.8 | Chr5 | 57,708,987 | 57,745,441 | ||
nssv619956 | Submitted genomic | NC_000005.8:g.(577 08987_?)_(?_577454 41)del7194 | NCBI35 (hg17) | NC_000005.8 | Chr5 | 57,708,987 | 57,745,441 | ||
nssv622522 | Submitted genomic | NC_000005.8:g.(577 08987_?)_(?_577454 41)del6588 | NCBI35 (hg17) | NC_000005.8 | Chr5 | 57,708,987 | 57,745,441 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv619956 | 4 | GM15510 | Sequencing | Paired-end mapping | Pass |
Clinical Assertions
Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|---|---|
nssv617511 | CHM | NCBI35: NC_000005.8:g.(57708987_?)_(?_57745441)del5713 | deletion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |