A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534048



Internal ID15503440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:31727863..32151995hg38UCSC Ensembl
Innerchr15:32020066..32444196hg19UCSC Ensembl
Innerchr15:29807358..30231488hg18UCSC Ensembl
Innerchr15:29807358..30231488hg17UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38424133
hg19424131
hg18424131
hg17424131
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456758
Supporting Variants
Samples1780862263_A
Known GenesCHRNA7
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv534048
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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