A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586944



Internal ID18538539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:234676935..235726730hg38UCSC Ensembl
Innerchr2:235585579..236635374hg19UCSC Ensembl
Innerchr2:235250318..236300113hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381049796
hg191049796
hg181049796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999839
Supporting Variants
Samples
Known GenesAGAP1, SH3BP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586944
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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