A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457162



Internal ID15170541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:56790808..56933568hg38UCSC Ensembl
Innerchr15:57083006..57225766hg19UCSC Ensembl
Innerchr15:54870298..55013058hg18UCSC Ensembl
Innerchr15:54870298..55013058hg17UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38142761
hg19142761
hg18142761
hg17142761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534414
SamplesHGDP01023
Known GenesLOC145783, TCF12
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)nsv457162
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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