nsv9918
- Organism: Homo sapiens
- Study:nstd4 (Perry et al. 2008)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,125
- Publication(s):Perry 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: 175 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 175 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv9918 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 44,738,952 | 44,743,076 |
| nsv9918 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 45,134,832 | 45,138,956 |
| nsv9918 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 43,455,369 | 43,459,493 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv26660 | copy number loss | NA18537 | Oligo aCGH | Probe signal intensity | 587 |
| nssv26786 | copy number loss | NA19144 | Oligo aCGH | Probe signal intensity | 629 |
| nssv27439 | copy number loss | NA18504 | Oligo aCGH | Probe signal intensity | 700 |
| nssv27875 | copy number loss | NA19132 | Oligo aCGH | Probe signal intensity | 684 |
| nssv28172 | copy number loss | NA18860 | Oligo aCGH | Probe signal intensity | 768 |
| nssv28768 | copy number loss | NA19221 | Oligo aCGH | Probe signal intensity | 857 |
| nssv25405 | copy number loss | NA18975 | Oligo aCGH | Probe signal intensity | 529 |
| nssv27960 | copy number loss | NA18972 | Oligo aCGH | Probe signal intensity | 693 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv26660 | Remapped | Perfect | NC_000022.11:g.(44 738952_44739537)_( 44740088_44740929) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,738,952 | 44,739,537 | 44,740,088 | 44,740,929 |
| nssv26786 | Remapped | Perfect | NC_000022.11:g.(44 738952_44739537)_( 44740088_44740929) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,738,952 | 44,739,537 | 44,740,088 | 44,740,929 |
| nssv27439 | Remapped | Perfect | NC_000022.11:g.(44 738952_44739537)_( 44740088_44740929) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,738,952 | 44,739,537 | 44,740,088 | 44,740,929 |
| nssv27875 | Remapped | Perfect | NC_000022.11:g.(44 738952_44739537)_( 44740088_44740929) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,738,952 | 44,739,537 | 44,740,088 | 44,740,929 |
| nssv28172 | Remapped | Perfect | NC_000022.11:g.(44 738952_44739537)_( 44740088_44740929) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,738,952 | 44,739,537 | 44,740,088 | 44,740,929 |
| nssv28768 | Remapped | Perfect | NC_000022.11:g.(44 738952_44739537)_( 44740088_44740929) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,738,952 | 44,739,537 | 44,740,088 | 44,740,929 |
| nssv25405 | Remapped | Perfect | NC_000022.11:g.(44 738952_44739537)_( 44740929_44743076) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,738,952 | 44,739,537 | 44,740,929 | 44,743,076 |
| nssv27960 | Remapped | Perfect | NC_000022.11:g.(44 738952_44739537)_( 44740929_44743076) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,738,952 | 44,739,537 | 44,740,929 | 44,743,076 |
| nssv26660 | Remapped | Perfect | NC_000022.10:g.(45 134832_45135417)_( 45135968_45136809) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,134,832 | 45,135,417 | 45,135,968 | 45,136,809 |
| nssv26786 | Remapped | Perfect | NC_000022.10:g.(45 134832_45135417)_( 45135968_45136809) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,134,832 | 45,135,417 | 45,135,968 | 45,136,809 |
| nssv27439 | Remapped | Perfect | NC_000022.10:g.(45 134832_45135417)_( 45135968_45136809) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,134,832 | 45,135,417 | 45,135,968 | 45,136,809 |
| nssv27875 | Remapped | Perfect | NC_000022.10:g.(45 134832_45135417)_( 45135968_45136809) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,134,832 | 45,135,417 | 45,135,968 | 45,136,809 |
| nssv28172 | Remapped | Perfect | NC_000022.10:g.(45 134832_45135417)_( 45135968_45136809) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,134,832 | 45,135,417 | 45,135,968 | 45,136,809 |
| nssv28768 | Remapped | Perfect | NC_000022.10:g.(45 134832_45135417)_( 45135968_45136809) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,134,832 | 45,135,417 | 45,135,968 | 45,136,809 |
| nssv25405 | Remapped | Perfect | NC_000022.10:g.(45 134832_45135417)_( 45136809_45138956) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,134,832 | 45,135,417 | 45,136,809 | 45,138,956 |
| nssv27960 | Remapped | Perfect | NC_000022.10:g.(45 134832_45135417)_( 45136809_45138956) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,134,832 | 45,135,417 | 45,136,809 | 45,138,956 |
| nssv26660 | Submitted genomic | NC_000022.8:g.(434 55369_43455954)_(4 3456505_43457346)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 43,455,369 | 43,455,954 | 43,456,505 | 43,457,346 | ||
| nssv26786 | Submitted genomic | NC_000022.8:g.(434 55369_43455954)_(4 3456505_43457346)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 43,455,369 | 43,455,954 | 43,456,505 | 43,457,346 | ||
| nssv27439 | Submitted genomic | NC_000022.8:g.(434 55369_43455954)_(4 3456505_43457346)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 43,455,369 | 43,455,954 | 43,456,505 | 43,457,346 | ||
| nssv27875 | Submitted genomic | NC_000022.8:g.(434 55369_43455954)_(4 3456505_43457346)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 43,455,369 | 43,455,954 | 43,456,505 | 43,457,346 | ||
| nssv28172 | Submitted genomic | NC_000022.8:g.(434 55369_43455954)_(4 3456505_43457346)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 43,455,369 | 43,455,954 | 43,456,505 | 43,457,346 | ||
| nssv28768 | Submitted genomic | NC_000022.8:g.(434 55369_43455954)_(4 3456505_43457346)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 43,455,369 | 43,455,954 | 43,456,505 | 43,457,346 | ||
| nssv25405 | Submitted genomic | NC_000022.8:g.(434 55369_43455954)_(4 3457346_43459493)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 43,455,369 | 43,455,954 | 43,457,346 | 43,459,493 | ||
| nssv27960 | Submitted genomic | NC_000022.8:g.(434 55369_43455954)_(4 3457346_43459493)d el | NCBI35 (hg17) | NC_000022.8 | Chr22 | 43,455,369 | 43,455,954 | 43,457,346 | 43,459,493 |