A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540513



Internal ID15161667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:87411313..87510000hg38UCSC Ensembl
Innerchr7:87040629..87139316hg19UCSC Ensembl
Innerchr7:86878565..86977252hg18UCSC Ensembl
Innerchr7:86685280..86783967hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg3898688
hg1998688
hg1898688
hg1798688
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464623
Supporting Variants
SamplesHGDP00807
Known GenesABCB1, ABCB4
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)nssv540513
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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