A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559393



Internal ID16346802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74135050..74202472hg38UCSC Ensembl
Innerchr12:74528830..74596252hg19UCSC Ensembl
Innerchr12:72815097..72882519hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3867423
hg1967423
hg1867423
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2715n54
Supporting Variantsnssv1175871
SamplesHGDP00133
Known GenesLOC100507377
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559393
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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