A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3480889



Internal ID18722736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16518425..16660344hg38UCSC Ensembl
Innerchr1:16844920..16986839hg19UCSC Ensembl
Innerchr1:16717507..16859426hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38141920
hg19141920
hg18141920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999004
Supporting Variants
Samples
Known GenesCROCCP2, MIR3675, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3480889
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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