A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005392



Internal ID19094609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77164013..77214142hg38UCSC Ensembl
Innerchr2:77391139..77441268hg19UCSC Ensembl
Innerchr2:77244647..77294776hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3850130
hg1950130
hg1850130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582058, nssv3582059, nssv3582060
Samples
Known GenesLRRTM4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005392
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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