A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729124



Internal ID18680719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91730225..92117746hg38UCSC Ensembl
Innerchr2:91918251..92305772hg19UCSC Ensembl
Innerchr2:91281978..91669499hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38387522
hg19387522
hg18387522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011666
Supporting Variants
Samples
Known GenesACTR3BP2, GGT8P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729124
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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