nsv1151475
- Organism: Homo sapiens
- Study:nstd107 (John et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:89
- Publication(s):John et al. 2014
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: 522 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 56 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 62 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 523 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1151475 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 189,835,682 | 189,835,770 |
| nsv1151475 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 484,411 | 484,499 |
| nsv1151475 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 169,208 | 169,296 |
| nsv1151475 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 169,208 | 169,296 |
| nsv1151475 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 190,756,837 | 190,756,925 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv4004040 | deletion | KWB1 | Sequencing | Read depth and paired-end mapping | 8,440 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv4004040 | Remapped | Perfect | NT_187679.1:g.(484 411_?)_(?_484499)d el | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 484,411 | 484,499 |
| nssv4004040 | Remapped | Perfect | NT_187543.1:g.(169 208_?)_(?_169296)d el | GRCh38.p12 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 169,208 | 169,296 |
| nssv4004040 | Remapped | Perfect | NT_187650.1:g.(169 208_?)_(?_169296)d el | GRCh38.p12 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 169,208 | 169,296 |
| nssv4004040 | Remapped | Perfect | NC_000004.12:g.(18 9835682_?)_(?_1898 35770)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,835,682 | 189,835,770 |
| nssv4004040 | Submitted genomic | NC_000004.11:g.(19 0756837_?)_(?_1907 56925)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 190,756,837 | 190,756,925 |