nsv6625442
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:77,646
- Publication(s):Zarrei et al. 2023
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: 784 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 454 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 468 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 459 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 459 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 462 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 435 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 459 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 465 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 469 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 405 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625442 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 54,938,068 | 55,015,713 |
| nsv6625442 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 920,550 | 998,195 |
| nsv6625442 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 650,229 | 727,874 |
| nsv6625442 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 945,591 | 1,023,236 |
| nsv6625442 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 920,140 | 997,785 |
| nsv6625442 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 856,433 | 934,078 |
| nsv6625442 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 842,420 | 918,495 |
| nsv6625442 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 918,054 | 995,699 |
| nsv6625442 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 583,270 | 660,915 |
| nsv6625442 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 841,466 | 919,111 |
| nsv6625442 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 55,449,436 | 55,527,081 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18289813 | deletion | OSC3488 | SNP array | Probe signal intensity | nssv18289239, nssv18289487 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18289813 | Remapped | Perfect | NT_187693.1:g.(?_9 20550)_(998195_?)d el | GRCh38.p12 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 920,550 | 998,195 |
| nssv18289813 | Remapped | Perfect | NW_003571061.2:g.( ?_650229)_(727874_ ?)del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 650,229 | 727,874 |
| nssv18289813 | Remapped | Good | NW_003571060.1:g.( ?_842420)_(918495_ ?)del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 842,420 | 918,495 |
| nssv18289813 | Remapped | Perfect | NW_003571059.2:g.( ?_856433)_(934078_ ?)del | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 856,433 | 934,078 |
| nssv18289813 | Remapped | Perfect | NW_003571058.2:g.( ?_920140)_(997785_ ?)del | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 920,140 | 997,785 |
| nssv18289813 | Remapped | Perfect | NW_003571057.2:g.( ?_945591)_(1023236 _?)del | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 945,591 | 1,023,236 |
| nssv18289813 | Remapped | Perfect | NW_003571056.2:g.( ?_918054)_(995699_ ?)del | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 918,054 | 995,699 |
| nssv18289813 | Remapped | Perfect | NW_003571055.2:g.( ?_583270)_(660915_ ?)del | GRCh38.p12 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 583,270 | 660,915 |
| nssv18289813 | Remapped | Perfect | NW_003571054.1:g.( ?_841466)_(919111_ ?)del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 841,466 | 919,111 |
| nssv18289813 | Remapped | Perfect | NC_000019.10:g.(?_ 54938068)_(5501571 3_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 54,938,068 | 55,015,713 |
| nssv18289813 | Submitted genomic | NC_000019.9:g.(?_5 5449436)_(55527081 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,449,436 | 55,527,081 |