nsv442767
- Organism: Homo sapiens
- Study:nstd22 (McCarroll et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:40,131
- Publication(s):McCarroll et al. 2008
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: 1567 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1567 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv442767 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nsv442767 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nsv442767 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1652521 | copy number gain | NA10855 | SNP array | Probe signal intensity | 3 | 148 |
| nssv1652522 | copy number gain | NA11832 | SNP array | Probe signal intensity | 3 | 160 |
| nssv1652523 | copy number gain | NA18517 | SNP array | Probe signal intensity | 3 | 151 |
| nssv1652524 | copy number gain | NA18537 | SNP array | Probe signal intensity | 3 | 164 |
| nssv1652525 | copy number gain | NA18603 | SNP array | Probe signal intensity | 3 | 150 |
| nssv1652526 | copy number gain | NA18605 | SNP array | Probe signal intensity | 3 | 169 |
| nssv1652527 | copy number gain | NA19192 | SNP array | Probe signal intensity | 3 | 167 |
| nssv1652528 | copy number loss | NA10831 | SNP array | Probe signal intensity | 1 | 153 |
| nssv1652529 | copy number loss | NA12155 | SNP array | Probe signal intensity | 1 | 152 |
| nssv1652530 | copy number loss | NA12875 | SNP array | Probe signal intensity | 1 | 146 |
| nssv1652531 | copy number loss | NA18500 | SNP array | Probe signal intensity | 1 | 190 |
| nssv1652532 | copy number loss | NA18501 | SNP array | Probe signal intensity | 1 | 192 |
| nssv1652533 | copy number loss | NA18521 | SNP array | Probe signal intensity | 1 | 174 |
| nssv1652534 | copy number loss | NA18522 | SNP array | Probe signal intensity | 1 | 172 |
| nssv1652535 | copy number loss | NA18542 | SNP array | Probe signal intensity | 1 | 177 |
| nssv1652536 | copy number loss | NA18856 | SNP array | Probe signal intensity | 1 | 188 |
| nssv1652537 | copy number loss | NA18862 | SNP array | Probe signal intensity | 1 | 183 |
| nssv1652538 | copy number loss | NA18999 | SNP array | Probe signal intensity | 1 | 138 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1652521 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652522 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652523 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652524 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652525 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652526 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652527 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652528 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652529 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652530 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652531 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652532 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652533 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652534 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652535 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652536 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652537 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652538 | Remapped | Perfect | NC_000019.10:g.(?_ 43052689)_(4309281 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,052,689 | 43,092,819 |
| nssv1652521 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652522 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652523 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652524 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652525 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652526 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652527 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652528 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652529 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652530 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652531 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652532 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652533 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652534 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652535 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652536 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652537 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652538 | Remapped | Perfect | NC_000019.9:g.(?_4 3556841)_(43596971 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,556,841 | 43,596,971 |
| nssv1652521 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)dup | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652522 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)dup | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652523 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)dup | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652524 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)dup | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652525 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)dup | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652526 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)dup | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652527 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)dup | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652528 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652529 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652530 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652531 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652532 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652533 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652534 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652535 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652536 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652537 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 | ||
| nssv1652538 | Submitted genomic | NC_000019.8:g.(?_4 8248681)_(48288811 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,248,681 | 48,288,811 |