A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032536



Internal ID18775070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73245562..73415079hg38UCSC Ensembl
Innerchr7:72659595..72829409hg19UCSC Ensembl
Innerchr7:72297531..72467345hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38169518
hg19169815
hg18169815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6466n100
Supporting Variantsnssv3755325
Samples
Known GenesFKBP6, NSUN5, TRIM50
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032536
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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