A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559027



Internal ID16346436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57201154..57205251hg38UCSC Ensembl
Innerchr12:57594937..57599034hg19UCSC Ensembl
Innerchr12:55881204..55885301hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg384098
hg194098
hg184098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2650n54
Supporting Variantsnssv796316, nssv796317, nssv796315
Samples
Known GenesLRP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559027
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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