nsv2784021
- Organism: Homo sapiens
- Study:nstd132 (Walker et al. 2017)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:41,879
- Publication(s):Walker et al. 2017
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: 254 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 65 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 254 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 65 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 73 SVs from 12 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 |
---|---|---|---|---|---|---|---|---|---|
nsv2784021 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,764,890 | 31,806,767 |
nsv2784021 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,106,779 | 3,148,657 |
nsv2784021 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,064,182 | 3,094,270 |
nsv2784021 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,012,664 | 3,054,542 |
nsv2784021 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 3,097,502 | 3,139,379 |
nsv2784021 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 31,732,667 | 31,774,544 |
nsv2784021 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_3 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,018,249 | 3,060,127 |
nsv2784021 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,112,364 | 3,154,242 |
nsv2784021 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 3,063,480 | 3,093,568 |
nsv2784021 | Remapped | Perfect | GRCh37.p13 | ALT_REF_LOCI_1 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 3,047,418 | 3,089,295 |
nsv2784021 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 31,840,646 | 31,882,523 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv13675497 | copy number loss | CGPQ-760 | SNP array | Genotyping | 101 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13675497 | Remapped | Pass | NT_167249.2:g.(?_3 064182)_(3094270_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,064,182 | 3,094,270 |
nssv13675497 | Remapped | Good | NT_167247.2:g.(?_3 106779)_(3148657_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,106,779 | 3,148,657 |
nssv13675497 | Remapped | Good | NT_167245.2:g.(?_3 012664)_(3054542_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,012,664 | 3,054,542 |
nssv13675497 | Remapped | Perfect | NT_167244.2:g.(?_3 097502)_(3139379_? )del | GRCh38.p12 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 3,097,502 | 3,139,379 |
nssv13675497 | Remapped | Perfect | NC_000006.12:g.(?_ 31764890)_(3180676 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,764,890 | 31,806,767 |
nssv13675497 | Remapped | Good | NT_167245.1:g.(?_3 018249)_(3060127_? )delNT_167245.1:g. (?_3018249)_(30601 27_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,018,249 | 3,060,127 |
nssv13675497 | Remapped | Perfect | NT_167244.1:g.(?_3 047418)_(3089295_? )del | GRCh37.p13 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 3,047,418 | 3,089,295 |
nssv13675497 | Remapped | Pass | NT_167249.1:g.(?_3 063480)_(3093568_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 3,063,480 | 3,093,568 |
nssv13675497 | Remapped | Good | NT_167247.1:g.(?_3 112364)_(3154242_? )delNT_167247.1:g. (?_3112364)_(31542 42_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,112,364 | 3,154,242 |
nssv13675497 | Remapped | Perfect | NC_000006.11:g.(?_ 31732667)_(3177454 4_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,732,667 | 31,774,544 |
nssv13675497 | Submitted genomic | NC_000006.10:g.(?_ 31840646)_(3188252 3_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,840,646 | 31,882,523 |