A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556928



Internal ID16344337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:758819..762696hg38UCSC Ensembl
Innerchr12:867985..871862hg19UCSC Ensembl
Innerchr12:738246..742123hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383878
hg193878
hg183878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2258n54
Supporting Variantsnssv786108, nssv786106, nssv786107
Samples
Known GenesWNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556928
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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