A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545229



Internal ID15985952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6048317..6124032hg38UCSC Ensembl
Innerchr1:6108377..6184092hg19UCSC Ensembl
Innerchr1:6030964..6106679hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3875716
hg1975716
hg1875716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173650
SamplesHGDP00491
Known GenesCHD5, KCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545229
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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