A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832517



Internal ID6158241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114650766..114830168hg19UCSC Ensembl
Outerchr12:113135149..113314551hg18UCSC Ensembl
Outerchr12:113113486..113292888hg17UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1450009
Samples
Known GenesTBX5
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv832517
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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