A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606202



Internal ID16393611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:11644949..11735060hg38UCSC Ensembl
Innerchr7:11684576..11774687hg19UCSC Ensembl
Innerchr7:11651101..11741212hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3890112
hg1990112
hg1890112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1079144
Samples
Known GenesTHSD7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606202
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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