A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051292



Internal ID18793823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10395301..10444121hg38UCSC Ensembl
Innerchr12:10547900..10596720hg19UCSC Ensembl
Innerchr12:10439167..10487987hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3848821
hg1948821
hg1848821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3513726
Samples
Known GenesKLRC2, KLRC3, KLRC4, KLRC4-KLRK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051292
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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