A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518946



Internal ID15099553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:745165..852170hg38UCSC Ensembl
Innerchr12:854331..961336hg19UCSC Ensembl
Innerchr12:724592..831597hg18UCSC Ensembl
Innerchr12:724592..831597hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38107006
hg19107006
hg18107006
hg17107006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696412
Samples
Known GenesWNK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518946
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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