A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029803



Internal ID18772334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56940122..57541341hg38UCSC Ensembl
Innerchr7:57007829..57601047hg19UCSC Ensembl
Innerchr7:57011771..57604989hg18UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38601220
hg19593219
hg18593219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6367n100
Supporting Variantsnssv3661482
Samples
Known GenesGUSBP10, MIR3147, MIR4283-1, MIR4283-2, ZNF479, ZNF716
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029803
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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