A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559717



Internal ID16000440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:89708819..89709513hg38UCSC Ensembl
Innerchr12:90102596..90103290hg19UCSC Ensembl
Innerchr12:88626727..88627421hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38695
hg19695
hg18695
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2776n54
Supporting Variantsnssv800053, nssv800050, nssv800051, nssv800052
Samples
Known GenesLINC00936
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559717
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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