nsv4387370
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:48,740
- Publication(s):Zarrei et al. 2019
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: 886 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 694 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 886 SVs from 86 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4387370 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 72,305,671 | 72,345,452 |
| nsv4387370 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 17,938 | 66,677 |
| nsv4387370 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 72,771,354 | 72,811,135 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612927 | copy number loss | 1-0692-003 | SNP array | Genotyping | 17 |
| nssv15625636 | copy number loss | 1-0345-004 | SNP array | Genotyping | 21 |
| nssv15626949 | copy number loss | 1-0458-002 | SNP array | Genotyping | 20 |
| nssv15631640 | copy number loss | 10-0003-003 | SNP array | Genotyping | 22 |
| nssv15651223 | copy number loss | 2-1369-001 | SNP array | Genotyping | 16 |
| nssv15654791 | copy number loss | 3-0289-000 | SNP array | Genotyping | 25 |
| nssv15685336 | copy number loss | OCD118-B_1711 | SNP array | Genotyping | 16 |
| nssv15692913 | copy number gain | OCD77-896703 | SNP array | Genotyping | 27 |
| nssv15697742 | copy number loss | 176440 | SNP array | Genotyping | 17 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612927 | Remapped | Pass | NW_018654707.1:g.( ?_17938)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 17,938 | 66,677 |
| nssv15625636 | Remapped | Pass | NW_018654707.1:g.( ?_17938)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 17,938 | 66,677 |
| nssv15626949 | Remapped | Pass | NW_018654707.1:g.( ?_17938)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 17,938 | 66,677 |
| nssv15631640 | Remapped | Pass | NW_018654707.1:g.( ?_17938)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 17,938 | 66,677 |
| nssv15651223 | Remapped | Pass | NW_018654707.1:g.( ?_17938)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 17,938 | 66,677 |
| nssv15654791 | Remapped | Pass | NW_018654707.1:g.( ?_17938)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 17,938 | 66,677 |
| nssv15685336 | Remapped | Pass | NW_018654707.1:g.( ?_17938)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 17,938 | 66,677 |
| nssv15692913 | Remapped | Pass | NW_018654707.1:g.( ?_17938)_(66677_?) dup | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 17,938 | 66,677 |
| nssv15697742 | Remapped | Pass | NW_018654707.1:g.( ?_17938)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 17,938 | 66,677 |
| nssv15612927 | Remapped | Perfect | NC_000001.11:g.(?_ 72305671)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,305,671 | 72,345,452 |
| nssv15625636 | Remapped | Perfect | NC_000001.11:g.(?_ 72305671)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,305,671 | 72,345,452 |
| nssv15626949 | Remapped | Perfect | NC_000001.11:g.(?_ 72305671)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,305,671 | 72,345,452 |
| nssv15631640 | Remapped | Perfect | NC_000001.11:g.(?_ 72305671)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,305,671 | 72,345,452 |
| nssv15651223 | Remapped | Perfect | NC_000001.11:g.(?_ 72305671)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,305,671 | 72,345,452 |
| nssv15654791 | Remapped | Perfect | NC_000001.11:g.(?_ 72305671)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,305,671 | 72,345,452 |
| nssv15685336 | Remapped | Perfect | NC_000001.11:g.(?_ 72305671)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,305,671 | 72,345,452 |
| nssv15692913 | Remapped | Perfect | NC_000001.11:g.(?_ 72305671)_(7234545 2_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,305,671 | 72,345,452 |
| nssv15697742 | Remapped | Perfect | NC_000001.11:g.(?_ 72305671)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,305,671 | 72,345,452 |
| nssv15612927 | Submitted genomic | NC_000001.10:g.(?_ 72771354)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,771,354 | 72,811,135 | ||
| nssv15625636 | Submitted genomic | NC_000001.10:g.(?_ 72771354)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,771,354 | 72,811,135 | ||
| nssv15626949 | Submitted genomic | NC_000001.10:g.(?_ 72771354)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,771,354 | 72,811,135 | ||
| nssv15631640 | Submitted genomic | NC_000001.10:g.(?_ 72771354)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,771,354 | 72,811,135 | ||
| nssv15651223 | Submitted genomic | NC_000001.10:g.(?_ 72771354)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,771,354 | 72,811,135 | ||
| nssv15654791 | Submitted genomic | NC_000001.10:g.(?_ 72771354)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,771,354 | 72,811,135 | ||
| nssv15685336 | Submitted genomic | NC_000001.10:g.(?_ 72771354)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,771,354 | 72,811,135 | ||
| nssv15692913 | Submitted genomic | NC_000001.10:g.(?_ 72771354)_(7281113 5_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,771,354 | 72,811,135 | ||
| nssv15697742 | Submitted genomic | NC_000001.10:g.(?_ 72771354)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,771,354 | 72,811,135 |