A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542317



Internal ID15162025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:34731710..34865418hg38UCSC Ensembl
Innerchr10:35020638..35154346hg19UCSC Ensembl
Innerchr10:35060644..35194352hg18UCSC Ensembl
Innerchr10:35060644..35194352hg17UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg38133709
hg19133709
hg18133709
hg17133709
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466863
Supporting Variants
SamplesHGDP00886
Known GenesPARD3, 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)nssv542317
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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