nsv511324
- Organism: Homo sapiens
- Study:nstd50 (Arlt et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,639
- 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: 286 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 286 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 14 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv511324 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 33,058,776 | 33,060,940 | 33,063,825 | 33,064,411 |
nsv511324 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 4,357,838 | 4,357,838 | 4,363,476 | 4,363,476 |
nsv511324 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,507,794 | 4,507,794 | 4,513,394 | 4,513,394 |
nsv511324 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 4,302,307 | 4,304,471 | 4,307,356 | 4,307,942 |
nsv511324 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 4,363,453 | 4,363,453 | 4,369,091 | 4,369,091 |
nsv511324 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 33,026,553 | 33,028,717 | 33,031,602 | 33,032,188 |
nsv511324 | Remapped | Perfect | GRCh37.p13 | ALT_REF_LOCI_3 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 4,307,892 | 4,310,056 | 4,312,941 | 4,313,527 |
nsv511324 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_1 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 4,313,369 | 4,313,369 | 4,319,007 | 4,319,007 |
nsv511324 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 4,363,423 | 4,363,423 | 4,369,061 | 4,369,061 |
nsv511324 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,507,092 | 4,507,092 | 4,512,692 | 4,512,692 |
nsv511324 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 33,134,531 | 33,136,695 | 33,139,580 | 33,140,166 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv625500 | copy number gain | 1 | SNP array | SNP genotyping analysis | 2,637 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv625500 | Remapped | Good | NT_167247.2:g.(435 7838_4357838)_(436 3476_4363476)dup | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 4,357,838 | 4,357,838 | 4,363,476 | 4,363,476 |
nssv625500 | Remapped | Good | NT_167249.2:g.(450 7794_4507794)_(451 3394_4513394)dup | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,507,794 | 4,507,794 | 4,513,394 | 4,513,394 |
nssv625500 | Remapped | Perfect | NT_167245.2:g.(430 2307_4304471)_(430 7356_4307942)dup | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 4,302,307 | 4,304,471 | 4,307,356 | 4,307,942 |
nssv625500 | Remapped | Good | NT_167244.2:g.(436 3453_4363453)_(436 9091_4369091)dup | GRCh38.p12 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 4,363,453 | 4,363,453 | 4,369,091 | 4,369,091 |
nssv625500 | Remapped | Perfect | NC_000006.12:g.(33 058776_33060940)_( 33063825_33064411) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 33,058,776 | 33,060,940 | 33,063,825 | 33,064,411 |
nssv625500 | Remapped | Perfect | NT_167245.1:g.(430 7892_4310056)_(431 2941_4313527)dupNT _167245.1:g.(43078 92_4310056)_(43129 41_4313527)dup | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 4,307,892 | 4,310,056 | 4,312,941 | 4,313,527 |
nssv625500 | Remapped | Good | NT_167244.1:g.(431 3369_4313369)_(431 9007_4319007)dup | GRCh37.p13 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 4,313,369 | 4,313,369 | 4,319,007 | 4,319,007 |
nssv625500 | Remapped | Good | NT_167247.1:g.(436 3423_4363423)_(436 9061_4369061)dupNT _167247.1:g.(43634 23_4363423)_(43690 61_4369061)dup | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 4,363,423 | 4,363,423 | 4,369,061 | 4,369,061 |
nssv625500 | Remapped | Good | NT_167249.1:g.(450 7092_4507092)_(451 2692_4512692)dup | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,507,092 | 4,507,092 | 4,512,692 | 4,512,692 |
nssv625500 | Remapped | Perfect | NC_000006.11:g.(33 026553_33028717)_( 33031602_33032188) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 33,026,553 | 33,028,717 | 33,031,602 | 33,032,188 |
nssv625500 | Submitted genomic | NC_000006.10:g.(33 134531_33136695)_( 33139580_33140166) dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 33,134,531 | 33,136,695 | 33,139,580 | 33,140,166 |