A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833530



Internal ID6159254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:70030090..70229114hg19UCSC Ensembl
Outerchr17:67541685..67740709hg18UCSC Ensembl
Outerchr17:67541685..67740709hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1453676, nssv1453674, nssv1453675
Samples
Known GenesSOX9
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv833530
Frequency
Sample Size95
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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