A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537323



Internal ID15158345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:110918624..111782250hg38UCSC Ensembl
Innerchr3:110637471..111501097hg19UCSC Ensembl
Innerchr3:112120161..112983787hg18UCSC Ensembl
Innerchr3:112120161..112983787hg17UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg38863627
hg19863627
hg18863627
hg17863627
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460821
Supporting Variants
SamplesHGDP00025
Known GenesCD96, PHLDB2, PLCXD2, PVRL3, PVRL3-AS1, ZBED2
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)nssv537323
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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