A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556921



Internal ID15997644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:758140..764367hg38UCSC Ensembl
Innerchr12:867306..873533hg19UCSC Ensembl
Innerchr12:737567..743794hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386228
hg196228
hg186228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2259n54
Supporting Variantsnssv786079, nssv786080, nssv786081, nssv786078, nssv786082
Samples
Known GenesWNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556921
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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