A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540238



Internal ID15510035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7874188..7930929hg38UCSC Ensembl
Innerchr7:7913819..7970560hg19UCSC Ensembl
Innerchr7:7880344..7937085hg18UCSC Ensembl
Innerchr7:7687059..7743800hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3856742
hg1956742
hg1856742
hg1756742
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464304
Supporting Variants
SamplesHGDP01177
Known GenesRPA3-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)nssv540238
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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