A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545382



Internal ID16332791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10248968..10317163hg38UCSC Ensembl
Innerchr1:10309026..10377221hg19UCSC Ensembl
Innerchr1:10231613..10299808hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3868196
hg1968196
hg1868196
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv709717, nssv709718
Samples
Known GenesKIF1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545382
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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