A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3478940



Internal ID18721686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16470226..16643949hg38UCSC Ensembl
Innerchr1:16796721..16970444hg19UCSC Ensembl
Innerchr1:16669308..16843031hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38173724
hg19173724
hg18173724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998355
Supporting Variants
Samples
Known GenesCROCCP2, CROCCP3, 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)nssv3478940
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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