A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833450



Internal ID6159174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:40813003..40977161hg19UCSC Ensembl
Outerchr17:38066529..38230687hg18UCSC Ensembl
Outerchr17:38066529..38230687hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1453407
Samples
Known GenesBECN1, CCDC56, CCR10, CNTD1, CNTNAP1, EZH1, LOC100190938, PLEKHH3, RAMP2, TUBG2, VPS25, WNK4
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv833450
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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