nsv515995
- Organism: Homo sapiens
- Study:nstd21 (Shaikh et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,361,473
- Publication(s):Shaikh et al. 2009
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: 3531 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 3531 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 200 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv515995 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 88,519,150 | 89,880,622 |
| nsv515995 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 88,148,465 | 89,509,936 |
| nsv515995 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 87,793,116 | 89,154,587 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv657359 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv665637 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv677430 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv699413 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv699983 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv695014 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv695317 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv699963 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv705765 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv693176 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv682035 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv697246 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv700639 | copy number loss | SNP array | SNP genotyping analysis | Homozygous |
| nssv706123 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv705622 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv656682 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv678833 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv701076 | copy number gain | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv657359 | Remapped | Perfect | NC_000007.14:g.(?_ 88519150)_(8988062 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 88,519,150 | 89,880,622 |
| nssv665637 | Remapped | Perfect | NC_000007.14:g.(?_ 88519150)_(8988062 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 88,519,150 | 89,880,622 |
| nssv677430 | Remapped | Perfect | NC_000007.14:g.(?_ 88519150)_(8988062 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 88,519,150 | 89,880,622 |
| nssv699413 | Remapped | Perfect | NC_000007.14:g.(?_ 88577185)_(8858134 8_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 88,577,185 | 88,581,348 |
| nssv699983 | Remapped | Perfect | NC_000007.14:g.(?_ 88577185)_(8858134 8_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 88,577,185 | 88,581,348 |
| nssv695014 | Remapped | Perfect | NC_000007.14:g.(?_ 88579150)_(8859114 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 88,579,150 | 88,591,149 |
| nssv695317 | Remapped | Perfect | NC_000007.14:g.(?_ 88773171)_(8877319 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 88,773,171 | 88,773,196 |
| nssv699963 | Remapped | Perfect | NC_000007.14:g.(?_ 88909179)_(8891437 3_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 88,909,179 | 88,914,373 |
| nssv705765 | Remapped | Perfect | NC_000007.14:g.(?_ 88954166)_(8895797 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 88,954,166 | 88,957,970 |
| nssv693176 | Remapped | Perfect | NC_000007.14:g.(?_ 88954166)_(8896633 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 88,954,166 | 88,966,337 |
| nssv682035 | Remapped | Perfect | NC_000007.14:g.(?_ 88957970)_(8896633 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 88,957,970 | 88,966,337 |
| nssv697246 | Remapped | Perfect | NC_000007.14:g.(?_ 89018544)_(8945732 4_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 89,018,544 | 89,457,324 |
| nssv700639 | Remapped | Perfect | NC_000007.14:g.(?_ 89145734)_(8914928 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 89,145,734 | 89,149,287 |
| nssv706123 | Remapped | Perfect | NC_000007.14:g.(?_ 89161295)_(8916488 5_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 89,161,295 | 89,164,885 |
| nssv705622 | Remapped | Perfect | NC_000007.14:g.(?_ 89199455)_(8927370 8_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 89,199,455 | 89,273,708 |
| nssv656682 | Remapped | Perfect | NC_000007.14:g.(?_ 89275360)_(8927546 3_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 89,275,360 | 89,275,463 |
| nssv678833 | Remapped | Perfect | NC_000007.14:g.(?_ 89275360)_(8927546 3_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 89,275,360 | 89,275,463 |
| nssv701076 | Remapped | Perfect | NC_000007.14:g.(?_ 89838804)_(8985453 0_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 89,838,804 | 89,854,530 |
| nssv657359 | Remapped | Perfect | NC_000007.13:g.(?_ 88148465)_(8950993 6_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,148,465 | 89,509,936 |
| nssv665637 | Remapped | Perfect | NC_000007.13:g.(?_ 88148465)_(8950993 6_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,148,465 | 89,509,936 |
| nssv677430 | Remapped | Perfect | NC_000007.13:g.(?_ 88148465)_(8950993 6_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,148,465 | 89,509,936 |
| nssv699413 | Remapped | Perfect | NC_000007.13:g.(?_ 88206500)_(8821066 3_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,206,500 | 88,210,663 |
| nssv699983 | Remapped | Perfect | NC_000007.13:g.(?_ 88206500)_(8821066 3_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,206,500 | 88,210,663 |
| nssv695014 | Remapped | Perfect | NC_000007.13:g.(?_ 88208465)_(8822046 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,208,465 | 88,220,464 |
| nssv695317 | Remapped | Perfect | NC_000007.13:g.(?_ 88402485)_(8840251 0_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,402,485 | 88,402,510 |
| nssv699963 | Remapped | Perfect | NC_000007.13:g.(?_ 88538493)_(8854368 7_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,538,493 | 88,543,687 |
| nssv705765 | Remapped | Perfect | NC_000007.13:g.(?_ 88583480)_(8858728 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,583,480 | 88,587,284 |
| nssv693176 | Remapped | Perfect | NC_000007.13:g.(?_ 88583480)_(8859565 1_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,583,480 | 88,595,651 |
| nssv682035 | Remapped | Perfect | NC_000007.13:g.(?_ 88587284)_(8859565 1_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,587,284 | 88,595,651 |
| nssv697246 | Remapped | Perfect | NC_000007.13:g.(?_ 88647858)_(8908663 8_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,647,858 | 89,086,638 |
| nssv700639 | Remapped | Perfect | NC_000007.13:g.(?_ 88775048)_(8877860 1_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,775,048 | 88,778,601 |
| nssv706123 | Remapped | Perfect | NC_000007.13:g.(?_ 88790609)_(8879419 9_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,790,609 | 88,794,199 |
| nssv705622 | Remapped | Perfect | NC_000007.13:g.(?_ 88828769)_(8890302 2_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,828,769 | 88,903,022 |
| nssv656682 | Remapped | Perfect | NC_000007.13:g.(?_ 88904674)_(8890477 7_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,904,674 | 88,904,777 |
| nssv678833 | Remapped | Perfect | NC_000007.13:g.(?_ 88904674)_(8890477 7_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,904,674 | 88,904,777 |
| nssv701076 | Remapped | Perfect | NC_000007.13:g.(?_ 89468118)_(8948384 4_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 89,468,118 | 89,483,844 |
| nssv657359 | Submitted genomic | NC_000007.11:g.(?_ 87793116)_(8915458 7_?)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 87,793,116 | 89,154,587 | ||
| nssv665637 | Submitted genomic | NC_000007.11:g.(?_ 87793116)_(8915458 7_?)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 87,793,116 | 89,154,587 | ||
| nssv677430 | Submitted genomic | NC_000007.11:g.(?_ 87793116)_(8915458 7_?)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 87,793,116 | 89,154,587 | ||
| nssv699413 | Submitted genomic | NC_000007.11:g.(?_ 87851151)_(8785531 4_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 87,851,151 | 87,855,314 | ||
| nssv699983 | Submitted genomic | NC_000007.11:g.(?_ 87851151)_(8785531 4_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 87,851,151 | 87,855,314 | ||
| nssv695014 | Submitted genomic | NC_000007.11:g.(?_ 87853116)_(8786511 5_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 87,853,116 | 87,865,115 | ||
| nssv695317 | Submitted genomic | NC_000007.11:g.(?_ 88047136)_(8804716 1_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 88,047,136 | 88,047,161 | ||
| nssv699963 | Submitted genomic | NC_000007.11:g.(?_ 88183144)_(8818833 8_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 88,183,144 | 88,188,338 | ||
| nssv705765 | Submitted genomic | NC_000007.11:g.(?_ 88228131)_(8823193 5_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 88,228,131 | 88,231,935 | ||
| nssv693176 | Submitted genomic | NC_000007.11:g.(?_ 88228131)_(8824030 2_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 88,228,131 | 88,240,302 | ||
| nssv682035 | Submitted genomic | NC_000007.11:g.(?_ 88231935)_(8824030 2_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 88,231,935 | 88,240,302 | ||
| nssv697246 | Submitted genomic | NC_000007.11:g.(?_ 88292509)_(8873128 9_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 88,292,509 | 88,731,289 | ||
| nssv700639 | Submitted genomic | NC_000007.11:g.(?_ 88419699)_(8842325 2_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 88,419,699 | 88,423,252 | ||
| nssv706123 | Submitted genomic | NC_000007.11:g.(?_ 88435260)_(8843885 0_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 88,435,260 | 88,438,850 | ||
| nssv705622 | Submitted genomic | NC_000007.11:g.(?_ 88473420)_(8854767 3_?)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 88,473,420 | 88,547,673 | ||
| nssv656682 | Submitted genomic | NC_000007.11:g.(?_ 88549325)_(8854942 8_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 88,549,325 | 88,549,428 | ||
| nssv678833 | Submitted genomic | NC_000007.11:g.(?_ 88549325)_(8854942 8_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 88,549,325 | 88,549,428 | ||
| nssv701076 | Submitted genomic | NC_000007.11:g.(?_ 89112769)_(8912849 5_?)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 89,112,769 | 89,128,495 |