A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542314



Internal ID15161114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:34383535..35056041hg38UCSC Ensembl
Innerchr10:34672463..35344969hg19UCSC Ensembl
Innerchr10:34712469..35384975hg18UCSC Ensembl
Innerchr10:34712469..35384975hg17UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg38672507
hg19672507
hg18672507
hg17672507
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466860
Supporting Variants
SamplesHGDP00719
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)nssv542314
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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