A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3583135



Internal ID18534730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183280673..186047848hg38UCSC Ensembl
Innerchr2:184145401..186912575hg19UCSC Ensembl
Innerchr2:183853646..186620820hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg382767176
hg192767175
hg182767175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002759
Supporting Variants
Samples
Known GenesFSIP2, ZNF804A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3583135
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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