A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534045



Internal ID15512570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:31727863..32151722hg38UCSC Ensembl
Innerchr15:32020066..32443923hg19UCSC Ensembl
Innerchr15:29807358..30231215hg18UCSC Ensembl
Innerchr15:29807358..30231215hg17UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38423860
hg19423858
hg18423858
hg17423858
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456755
Supporting Variants
SamplesNINDS_35
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)nssv534045
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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