A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557455



Internal ID15998178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10356376..10408358hg38UCSC Ensembl
Innerchr12:10508975..10560957hg19UCSC Ensembl
Innerchr12:10400242..10452224hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3851983
hg1951983
hg1851983
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv788012
Samples
Known GenesKLRC4, KLRC4-KLRK1, KLRK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557455
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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