A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557459



Internal ID15998182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10407992..10577222hg38UCSC Ensembl
Innerchr12:10560591..10729821hg19UCSC Ensembl
Innerchr12:10451858..10621088hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38169231
hg19169231
hg18169231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2358n54
Supporting Variantsnssv788017
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)nsv557459
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer