A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016541



Internal ID18759076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56755679..57746304hg38UCSC Ensembl
Innerchr7:56823372..57806010hg19UCSC Ensembl
Innerchr7:56790866..57809952hg18UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38990626
hg19982639
hg181019087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3661480
Samples
Known GenesGUSBP10, LOC100130849, 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)nsv1016541
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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