A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv908213



Internal ID6270140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37813338..37836353hg19UCSC Ensembl
Outerchr17:37807698..37839493hg19UCSC Ensembl
Innerchr17:35066864..35089879hg18UCSC Ensembl
Outerchr17:35061224..35093019hg18UCSC 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 Variantsnssv1499584
SamplesSP50159
Known GenesPGAP3, PNMT, STARD3, TCAP
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv908213
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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