A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535672



Internal ID15502812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53429042..53508130hg38UCSC Ensembl
Innerchr19:53932295..54011384hg19UCSC Ensembl
Innerchr19:58624107..58703196hg18UCSC Ensembl
Innerchr19:58624107..58703196hg17UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3879089
hg1979090
hg1879090
hg1779090
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458770
Supporting Variants
Samples1780854540_A
Known GenesTPM3P9, ZNF761, ZNF813
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)nssv535672
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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