A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581757



Internal ID16369166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47569892..47570831hg38UCSC Ensembl
Innerchr2:47797031..47797970hg19UCSC Ensembl
Innerchr2:47650535..47651474hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38940
hg19940
hg18940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6848n54
Supporting Variantsnssv908108
Samples
Known GenesKCNK12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581757
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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