A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547883



Internal ID16335292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152566917..152618089hg38UCSC Ensembl
Innerchr1:152539393..152590565hg19UCSC Ensembl
Innerchr1:150806017..150857189hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3851173
hg1951173
hg1851173
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv568n54
Supporting Variantsnssv1173202
SamplesHGDP00998
Known GenesLCE3B, LCE3C, LCE3D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547883
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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