A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542316



Internal ID15162315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:34695956..35011695hg38UCSC Ensembl
Innerchr10:34984884..35300623hg19UCSC Ensembl
Innerchr10:35024890..35340629hg18UCSC Ensembl
Innerchr10:35024890..35340629hg17UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg38315740
hg19315740
hg18315740
hg17315740
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466862
Supporting Variants
SamplesHGDP00929
Known GenesCUL2, PARD3, PARD3-AS1
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)nssv542316
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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