A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3499441



Internal ID18740396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:112704008..112767796hg38UCSC Ensembl
Innerchr1:113246630..113310418hg19UCSC Ensembl
Innerchr1:113048153..113111941hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3863789
hg1963789
hg1863789
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998794
Supporting Variants
Samples
Known GenesFAM19A3, PPM1J, RHOC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3499441
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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