A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006311



Internal ID19095529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12772..94539hg38UCSC Ensembl
Innerchr2:12772..94539hg19UCSC Ensembl
Innerchr2:2772..84539hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3881768
hg1981768
hg1881768
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3692n100
Supporting Variantsnssv3570489, nssv3570488
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)nsv1006311
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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