A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557470



Internal ID15998193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10428209..10444018hg38UCSC Ensembl
Innerchr12:10580808..10596617hg19UCSC Ensembl
Innerchr12:10472075..10487884hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815810
hg1915810
hg1815810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2360n54
Supporting Variantsnssv788033, nssv788032
Samples
Known GenesKLRC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557470
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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