A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3730863



Internal ID18682458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71096874..71181739hg38UCSC Ensembl
Innerchr2:71324004..71408869hg19UCSC Ensembl
Innerchr2:71177512..71262377hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3884866
hg1984866
hg1884866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009014
Supporting Variants
Samples
Known GenesMCEE, MPHOSPH10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3730863
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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