A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537435



Internal ID15512103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:163995763..164095964hg38UCSC Ensembl
Innerchr3:163713551..163813752hg19UCSC Ensembl
Innerchr3:165196245..165296446hg18UCSC Ensembl
Innerchr3:165196253..165296454hg17UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38100202
hg19100202
hg18100202
hg17100202
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460965
Supporting Variants
SamplesNINDS_200
Known Genes
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)nssv537435
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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