A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997628



Internal ID18810478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16493126..16643949hg38UCSC Ensembl
Innerchr1:16819621..16970444hg19UCSC Ensembl
Innerchr1:16692208..16843031hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38150824
hg19150824
hg18150824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv40n100
Supporting Variantsnssv3464268
Samples
Known GenesCROCCP2, MIR3675, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997628
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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