A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008009



Internal ID19097228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152554167..152583926hg38UCSC Ensembl
Innerchr1:152526643..152556402hg19UCSC Ensembl
Innerchr1:150793267..150823026hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3829760
hg1929760
hg1829760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv416n100
Supporting Variantsnssv3494780
Samples
Known GenesLCE3D, LCE3E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008009
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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