A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556919



Internal ID16344328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:758140..761924hg38UCSC Ensembl
Innerchr12:867306..871090hg19UCSC Ensembl
Innerchr12:737567..741351hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383785
hg193785
hg183785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2257n54
Supporting Variantsnssv786076, nssv786075
Samples
Known GenesWNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556919
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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