A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516726



Internal ID15444019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6838864..6839718hg38UCSC Ensembl
Innerchr12:6948028..6948882hg19UCSC Ensembl
Innerchr12:6818289..6819143hg18UCSC Ensembl
Innerchr12:6818289..6819143hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38855
hg19855
hg18855
hg17855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv687930, nssv686614, nssv657250, nssv678064, nssv693490, nssv678046, nssv662011, nssv670467, nssv680013, nssv670711, nssv685869, nssv692959, nssv692932
Samples
Known GenesLEPREL2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516726
Frequency
Sample Size2026
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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