A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557476



Internal ID15998199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10434497..10446385hg38UCSC Ensembl
Innerchr12:10587096..10598984hg19UCSC Ensembl
Innerchr12:10478363..10490251hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3811889
hg1911889
hg1811889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv788049, nssv788050, nssv788048
Samples
Known GenesKLRC1, KLRC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557476
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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