A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032575



Internal ID18775109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66967866..67111047hg38UCSC Ensembl
Innerchr7:66432853..66576034hg19UCSC Ensembl
Innerchr7:66070288..66213469hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38143182
hg19143182
hg18143182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3655628
Samples
Known GenesSBDS, TYW1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032575
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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