A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999648



Internal ID19159184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12772..50415hg38UCSC Ensembl
Innerchr2:12772..50415hg19UCSC Ensembl
Innerchr2:2772..40415hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3837644
hg1937644
hg1837644
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3689n100
Supporting Variantsnssv3570470
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)nsv999648
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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