nsv513126
- Organism: Homo sapiens
- Study:nstd50 (Arlt et al. 2011)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:50,116
- Publication(s):Arlt et al. 2011
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: 858 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 687 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 858 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 495 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 498 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv513126 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,777,389 | 34,827,504 |
| nsv513126 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,718 | 319,833 |
| nsv513126 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 34,779,011 | 34,829,126 |
| nsv513126 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,718 | 319,833 |
| nsv513126 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 34,455,406 | 34,505,521 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv626618 | copy number loss | 1 | Sequencing | Paired-end mapping | 2,637 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv626618 | Remapped | Perfect | NW_003315915.1:g.( 269718_?)_(?_31983 3)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,718 | 319,833 |
| nssv626618 | Remapped | Perfect | NC_000004.12:g.(34 777389_?)_(?_34827 504)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,389 | 34,827,504 |
| nssv626618 | Remapped | Perfect | NW_003315915.1:g.( 269718_?)_(?_31983 3)del | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,718 | 319,833 |
| nssv626618 | Remapped | Perfect | NC_000004.11:g.(34 779011_?)_(?_34829 126)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,779,011 | 34,829,126 |
| nssv626618 | Submitted genomic | NC_000004.10:g.(34 455406_?)_(?_34505 521)del50116 | NCBI36 (hg18) | NC_000004.10 | Chr4 | 34,455,406 | 34,505,521 |