nsv470321
- Organism: Homo sapiens
- Study:nstd30 (Jakobsson et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:451,814
- Description:Double-copy duplication
- Publication(s):Jakobsson et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2270 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 2267 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 793 SVs from 33 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470321 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,556,311 | 77,008,124 |
| nsv470321 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 76,185,628 | 76,637,441 |
| nsv470321 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 76,023,564 | 76,475,377 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv545843 | copy number gain | HGDP01031 | SNP array | SNP genotyping analysis | 3 | 5 |
| nssv545887 | copy number gain | HGDP00721 | SNP array | SNP genotyping analysis | 3 | 7 |
| nssv545821 | copy number gain | HGDP00060 | SNP array | SNP genotyping analysis | 3 | 8 |
| nssv545909 | copy number gain | HGDP00911 | SNP array | SNP genotyping analysis | 3 | 6 |
| nssv545921 | copy number gain | HGDP00917 | SNP array | SNP genotyping analysis | 3 | nssv546957, nssv545903, nssv544996 |
| nssv545932 | copy number gain | HGDP00891 | SNP array | SNP genotyping analysis | 3 | 12 |
| nssv545965 | copy number gain | HGDP00933 | SNP array | SNP genotyping analysis | 3 | 5 |
| nssv545976 | copy number gain | HGDP00943 | SNP array | SNP genotyping analysis | 3 | 6 |
| nssv545810 | copy number gain | HGDP00913 | SNP array | SNP genotyping analysis | 4 | 12 |
| nssv545832 | copy number gain | HGDP01030 | SNP array | SNP genotyping analysis | 3 | nssv545739, nssv544744, nssv544815 |
| nssv545854 | copy number gain | HGDP00454 | SNP array | SNP genotyping analysis | 3 | nssv546708, nssv545507, nssv545862 |
| nssv545865 | copy number gain | HGDP00469 | SNP array | SNP genotyping analysis | 3 | nssv545709, nssv545785, nssv544705 |
| nssv545898 | copy number gain | HGDP00919 | SNP array | SNP genotyping analysis | 3 | 8 |
| nssv545954 | copy number gain | HGDP00939 | SNP array | SNP genotyping analysis | 3 | nssv547057, nssv547755, nssv545067 |
| nssv545987 | copy number gain | HGDP00929 | SNP array | SNP genotyping analysis | 3 | 5 |
| nssv545943 | copy number gain | HGDP01036 | SNP array | SNP genotyping analysis | 3 | 8 |
| nssv545876 | copy number gain | HGDP00458 | SNP array | SNP genotyping analysis | 3 | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv545843 | Remapped | Pass | NT_187561.1:g.(?_4 3146)_(209586_?)du p | GRCh38.p12 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 43,146 | 209,586 |
| nssv545887 | Remapped | Pass | NT_187561.1:g.(?_4 3146)_(209586_?)du p | GRCh38.p12 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 43,146 | 209,586 |
| nssv545843 | Remapped | Perfect | NC_000007.14:g.(?_ 76556311)_(7688090 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,556,311 | 76,880,902 |
| nssv545887 | Remapped | Perfect | NC_000007.14:g.(?_ 76556311)_(7688090 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,556,311 | 76,880,902 |
| nssv545821 | Remapped | Perfect | NC_000007.14:g.(?_ 76556311)_(7692789 5_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,556,311 | 76,927,895 |
| nssv545909 | Remapped | Perfect | NC_000007.14:g.(?_ 76556311)_(7692789 5_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,556,311 | 76,927,895 |
| nssv545921 | Remapped | Perfect | NC_000007.14:g.(?_ 76556311)_(7692789 5_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,556,311 | 76,927,895 |
| nssv545932 | Remapped | Perfect | NC_000007.14:g.(?_ 76556311)_(7692789 5_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,556,311 | 76,927,895 |
| nssv545965 | Remapped | Perfect | NC_000007.14:g.(?_ 76556311)_(7692789 5_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,556,311 | 76,927,895 |
| nssv545976 | Remapped | Perfect | NC_000007.14:g.(?_ 76556311)_(7692789 5_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,556,311 | 76,927,895 |
| nssv545810 | Remapped | Perfect | NC_000007.14:g.(?_ 76556311)_(7700812 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,556,311 | 77,008,124 |
| nssv545832 | Remapped | Perfect | NC_000007.14:g.(?_ 76556311)_(7700812 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,556,311 | 77,008,124 |
| nssv545854 | Remapped | Perfect | NC_000007.14:g.(?_ 76556311)_(7700812 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,556,311 | 77,008,124 |
| nssv545865 | Remapped | Perfect | NC_000007.14:g.(?_ 76556311)_(7700812 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,556,311 | 77,008,124 |
| nssv545898 | Remapped | Perfect | NC_000007.14:g.(?_ 76556311)_(7700812 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,556,311 | 77,008,124 |
| nssv545954 | Remapped | Perfect | NC_000007.14:g.(?_ 76556311)_(7700812 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,556,311 | 77,008,124 |
| nssv545987 | Remapped | Perfect | NC_000007.14:g.(?_ 76570932)_(7692789 5_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,570,932 | 76,927,895 |
| nssv545943 | Remapped | Perfect | NC_000007.14:g.(?_ 76600962)_(7688090 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,600,962 | 76,880,902 |
| nssv545876 | Remapped | Perfect | NC_000007.14:g.(?_ 76680424)_(7700812 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,680,424 | 77,008,124 |
| nssv545843 | Remapped | Perfect | NC_000007.13:g.(?_ 76185628)_(7651021 9_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,185,628 | 76,510,219 |
| nssv545887 | Remapped | Perfect | NC_000007.13:g.(?_ 76185628)_(7651021 9_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,185,628 | 76,510,219 |
| nssv545821 | Remapped | Perfect | NC_000007.13:g.(?_ 76185628)_(7655721 2_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,185,628 | 76,557,212 |
| nssv545909 | Remapped | Perfect | NC_000007.13:g.(?_ 76185628)_(7655721 2_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,185,628 | 76,557,212 |
| nssv545921 | Remapped | Perfect | NC_000007.13:g.(?_ 76185628)_(7655721 2_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,185,628 | 76,557,212 |
| nssv545932 | Remapped | Perfect | NC_000007.13:g.(?_ 76185628)_(7655721 2_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,185,628 | 76,557,212 |
| nssv545965 | Remapped | Perfect | NC_000007.13:g.(?_ 76185628)_(7655721 2_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,185,628 | 76,557,212 |
| nssv545976 | Remapped | Perfect | NC_000007.13:g.(?_ 76185628)_(7655721 2_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,185,628 | 76,557,212 |
| nssv545810 | Remapped | Perfect | NC_000007.13:g.(?_ 76185628)_(7663744 1_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,185,628 | 76,637,441 |
| nssv545832 | Remapped | Perfect | NC_000007.13:g.(?_ 76185628)_(7663744 1_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,185,628 | 76,637,441 |
| nssv545854 | Remapped | Perfect | NC_000007.13:g.(?_ 76185628)_(7663744 1_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,185,628 | 76,637,441 |
| nssv545865 | Remapped | Perfect | NC_000007.13:g.(?_ 76185628)_(7663744 1_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,185,628 | 76,637,441 |
| nssv545898 | Remapped | Perfect | NC_000007.13:g.(?_ 76185628)_(7663744 1_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,185,628 | 76,637,441 |
| nssv545954 | Remapped | Perfect | NC_000007.13:g.(?_ 76185628)_(7663744 1_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,185,628 | 76,637,441 |
| nssv545987 | Remapped | Perfect | NC_000007.13:g.(?_ 76200249)_(7655721 2_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,200,249 | 76,557,212 |
| nssv545943 | Remapped | Perfect | NC_000007.13:g.(?_ 76230279)_(7651021 9_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,230,279 | 76,510,219 |
| nssv545876 | Remapped | Perfect | NC_000007.13:g.(?_ 76309741)_(7663744 1_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,309,741 | 76,637,441 |
| nssv545843 | Submitted genomic | NC_000007.12:g.(?_ 76023564)_(7634815 5_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,023,564 | 76,348,155 | ||
| nssv545887 | Submitted genomic | NC_000007.12:g.(?_ 76023564)_(7634815 5_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,023,564 | 76,348,155 | ||
| nssv545821 | Submitted genomic | NC_000007.12:g.(?_ 76023564)_(7639514 8_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,023,564 | 76,395,148 | ||
| nssv545909 | Submitted genomic | NC_000007.12:g.(?_ 76023564)_(7639514 8_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,023,564 | 76,395,148 | ||
| nssv545921 | Submitted genomic | NC_000007.12:g.(?_ 76023564)_(7639514 8_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,023,564 | 76,395,148 | ||
| nssv545932 | Submitted genomic | NC_000007.12:g.(?_ 76023564)_(7639514 8_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,023,564 | 76,395,148 | ||
| nssv545965 | Submitted genomic | NC_000007.12:g.(?_ 76023564)_(7639514 8_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,023,564 | 76,395,148 | ||
| nssv545976 | Submitted genomic | NC_000007.12:g.(?_ 76023564)_(7639514 8_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,023,564 | 76,395,148 | ||
| nssv545810 | Submitted genomic | NC_000007.12:g.(?_ 76023564)_(7647537 7_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,023,564 | 76,475,377 | ||
| nssv545832 | Submitted genomic | NC_000007.12:g.(?_ 76023564)_(7647537 7_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,023,564 | 76,475,377 | ||
| nssv545854 | Submitted genomic | NC_000007.12:g.(?_ 76023564)_(7647537 7_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,023,564 | 76,475,377 | ||
| nssv545865 | Submitted genomic | NC_000007.12:g.(?_ 76023564)_(7647537 7_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,023,564 | 76,475,377 | ||
| nssv545898 | Submitted genomic | NC_000007.12:g.(?_ 76023564)_(7647537 7_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,023,564 | 76,475,377 | ||
| nssv545954 | Submitted genomic | NC_000007.12:g.(?_ 76023564)_(7647537 7_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,023,564 | 76,475,377 | ||
| nssv545987 | Submitted genomic | NC_000007.12:g.(?_ 76038185)_(7639514 8_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,038,185 | 76,395,148 | ||
| nssv545943 | Submitted genomic | NC_000007.12:g.(?_ 76068215)_(7634815 5_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,068,215 | 76,348,155 | ||
| nssv545876 | Submitted genomic | NC_000007.12:g.(?_ 76147677)_(7647537 7_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 76,147,677 | 76,475,377 |