A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3495075



Internal ID18736030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148259059..148359038hg38UCSC Ensembl
Innerchr1:147731330..147831171hg19UCSC Ensembl
Innerchr1:146197954..146297795hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3899980
hg1999842
hg1899842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013285
Supporting Variants
Samples
Known GenesMIR5087, NBPF10, NBPF8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3495075
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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