nsv471433
- Organism: Homo sapiens
- Study:nstd31 (Alkan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:28,069
- Description:SMN1
- Publication(s):Alkan et al. 2009
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: 650 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 213 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 650 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471433 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 70,924,941 | 70,953,009 |
| nsv471433 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 457,782 | 485,846 |
| nsv471433 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187651.1 | Chr5|NT_18 7651.1 | 473,376 | 501,441 |
| nsv471433 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 70,220,768 | 70,248,836 |
| nsv471433 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 457,782 | 485,846 |
| nsv471433 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 70,256,524 | 70,284,592 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv548266 | copy number gain | JDW | Sequencing | Read depth | 3 | 198 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv548266 | Remapped | Good | NW_003315917.2:g.( 457782_?)_(?_48584 6)dup | GRCh38.p12 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 457,782 | 485,846 |
| nssv548266 | Remapped | Good | NT_187651.1:g.(473 376_?)_(?_501441)d up | GRCh38.p12 | Second Pass | NT_187651.1 | Chr5|NT_18 7651.1 | 473,376 | 501,441 |
| nssv548266 | Remapped | Perfect | NC_000005.10:g.(70 924941_?)_(?_70953 009)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 70,924,941 | 70,953,009 |
| nssv548266 | Remapped | Good | NW_003315917.2:g.( 457782_?)_(?_48584 6)dup | GRCh37.p13 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 457,782 | 485,846 |
| nssv548266 | Remapped | Perfect | NC_000005.9:g.(702 20768_?)_(?_702488 36)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 70,220,768 | 70,248,836 |
| nssv548266 | Submitted genomic | NC_000005.8:g.(702 56524_?)_(?_702845 92)dup | NCBI35 (hg17) | NC_000005.8 | Chr5 | 70,256,524 | 70,284,592 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv548266 | 4 | JDW | Oligo aCGH | Probe signal intensity | Pass |