A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002759



Internal ID18745291
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 StatusM
Merged Variantsdgv4114n100
Supporting Variantsnssv3583135
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)nsv1002759
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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