A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586947



Internal ID18538542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:235085672..235516444hg38UCSC Ensembl
Innerchr2:235994316..236425088hg19UCSC Ensembl
Innerchr2:235659055..236089827hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38430773
hg19430773
hg18430773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013692
Supporting Variants
Samples
Known GenesAGAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586947
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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