A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540395



Internal ID15505186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:54197894..54344915hg38UCSC Ensembl
Innerchr7:54265587..54412608hg19UCSC Ensembl
Innerchr7:54233081..54380102hg18UCSC Ensembl
Innerchr7:54039796..54186817hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38147022
hg19147022
hg18147022
hg17147022
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464480
Supporting Variants
SamplesHGDP00066
Known GenesHPVC1
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)nssv540395
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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