A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004486



Internal ID18747017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95878856..96019128hg38UCSC Ensembl
Innerchr2:96544604..96684876hg19UCSC Ensembl
Innerchr2:95908331..96048603hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38140273
hg19140273
hg18140273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3579551
Samples
Known GenesFAHD2CP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004486
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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