A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515591



Internal ID15443202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12052867..12123248hg38UCSC Ensembl
Innerchr10:12094866..12165247hg19UCSC Ensembl
Innerchr10:12134872..12205253hg18UCSC Ensembl
Innerchr10:12134872..12205253hg17UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3870382
hg1970382
hg1870382
hg1770382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv37n21
Supporting Variantsnssv672208, nssv681111, nssv680030, nssv679723, nssv659954, nssv676726, nssv689563, nssv664023, nssv684991, nssv673917, nssv669954
Samples
Known GenesDHTKD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515591
Frequency
Sample Size2026
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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