A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3579526



Internal ID18531121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91578498..92117746hg38UCSC Ensembl
Innerchr2:91766557..92305772hg19UCSC Ensembl
Innerchr2:91130284..91669499hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38539249
hg19539216
hg18539216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007356
Supporting Variants
Samples
Known GenesACTR3BP2, GGT8P, LOC654342
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3579526
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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