A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3704814



Internal ID18656409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169220348..169378307hg38UCSC Ensembl
Innerchr1:169189586..169347545hg19UCSC Ensembl
Innerchr1:167456210..167614169hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38157960
hg19157960
hg18157960
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010010
Supporting Variants
Samples
Known GenesBLZF1, NME7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3704814
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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