A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521062



Internal ID15101669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10408358..10452346hg38UCSC Ensembl
Innerchr12:10560957..10604945hg19UCSC Ensembl
Innerchr12:10452224..10496212hg18UCSC Ensembl
Innerchr12:10452224..10496212hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3843989
hg1943989
hg1843989
hg1743989
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697763
Samples
Known GenesKLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521062
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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