A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606200



Internal ID16393609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:11482898..11563272hg38UCSC Ensembl
Innerchr7:11522525..11602899hg19UCSC Ensembl
Innerchr7:11489050..11569424hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3880375
hg1980375
hg1880375
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155284
SamplesHGDP00003
Known GenesTHSD7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606200
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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