A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586946



Internal ID18538541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:235085672..235513932hg38UCSC Ensembl
Innerchr2:235994316..236422576hg19UCSC Ensembl
Innerchr2:235659055..236087315hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38428261
hg19428261
hg18428261
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006107
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)nssv3586946
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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