A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557457



Internal ID15998180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10393326..10545656hg38UCSC Ensembl
Innerchr12:10545925..10698255hg19UCSC Ensembl
Innerchr12:10437192..10589522hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38152331
hg19152331
hg18152331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2358n54
Supporting Variantsnssv788015
Samples
Known GenesKLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557457
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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