A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607049



Internal ID16047772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:57140959..57530097hg38UCSC Ensembl
Innerchr7:57208666..57589803hg19UCSC Ensembl
Innerchr7:57212608..57593745hg18UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38389139
hg19381138
hg18381138
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11354n54
Supporting Variantsnssv1155314
Samples1798860210_A
Known GenesGUSBP10, MIR3147, ZNF716
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607049
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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