A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557460



Internal ID15998183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10416038..10444018hg38UCSC Ensembl
Innerchr12:10568637..10596617hg19UCSC Ensembl
Innerchr12:10459904..10487884hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3827981
hg1927981
hg1827981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2359n54
Supporting Variantsnssv788019, nssv788018
Samples
Known GenesKLRC2, KLRC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557460
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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