A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606907



Internal ID16047630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:50831471..51127683hg38UCSC Ensembl
Innerchr7:50899168..51195380hg19UCSC Ensembl
Innerchr7:50866662..51162874hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38296213
hg19296213
hg18296213
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1083849
Samples
Known GenesCOBL, MIR4433B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606907
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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