A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000679



Internal ID19089896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12772..73399hg38UCSC Ensembl
Innerchr2:12772..73399hg19UCSC Ensembl
Innerchr2:2772..63399hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3860628
hg1960628
hg1860628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3691n100
Supporting Variantsnssv3570480, nssv3570478, nssv3570479
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)nsv1000679
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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