A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004654



Internal ID19093871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12772..55680hg38UCSC Ensembl
Innerchr2:12772..55680hg19UCSC Ensembl
Innerchr2:2772..45680hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3842909
hg1942909
hg1842909
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3689n100
Supporting Variantsnssv3570473
Samples
Known GenesFAM110C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004654
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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