A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013285



Internal ID19102503
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 gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv336n100
Supporting Variantsnssv3495075, nssv3495859, nssv3490892, nssv3484030
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)nsv1013285
Frequency
Sample Size11257
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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