A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729224



Internal ID18680819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127084354..127274970hg38UCSC Ensembl
Innerchr2:127841930..128032546hg19UCSC Ensembl
Innerchr2:127558400..127749016hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38190617
hg19190617
hg18190617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999809
Supporting Variants
Samples
Known GenesBIN1, CYP27C1, ERCC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729224
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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