A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557465



Internal ID15998188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10419023..10434497hg38UCSC Ensembl
Innerchr12:10571622..10587096hg19UCSC Ensembl
Innerchr12:10462889..10478363hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815475
hg1915475
hg1815475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv788025
Samples
Known GenesKLRC2, KLRC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557465
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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