A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556900



Internal ID16344309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:745165..859323hg38UCSC Ensembl
Innerchr12:854331..968489hg19UCSC Ensembl
Innerchr12:724592..838750hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38114159
hg19114159
hg18114159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2253n54
Supporting Variantsnssv785879
Samples
Known GenesWNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556900
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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