A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv908215



Internal ID6270142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37819241..37831035hg19UCSC Ensembl
Outerchr17:37818561..37834541hg19UCSC Ensembl
Innerchr17:35072767..35084561hg18UCSC Ensembl
Outerchr17:35072087..35088067hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1510972
SamplesSP54988
Known GenesPGAP3, PNMT, STARD3, TCAP
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv908215
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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