A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533939



Internal ID15506900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:24059521..24240013hg38UCSC Ensembl
Innerchr15:24304668..24485160hg19UCSC Ensembl
Innerchr15:21855761..22036253hg18UCSC Ensembl
Innerchr15:21855761..22036253hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38180493
hg19180493
hg18180493
hg17180493
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456644
Supporting Variants
SamplesHGDP00574
Known GenesPWRN2
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)nssv533939
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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