A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv890706



Internal ID6297717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30886858..30891832hg19UCSC Ensembl
Outerchr8:30879207..30892200hg19UCSC Ensembl
Innerchr8:31006400..31011374hg18UCSC Ensembl
Outerchr8:30998749..31011742hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1505973, nssv1508340
SamplesSP54043, SP54725
Known GenesPURG, WRN
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv890706
Frequency
Sample Size6533
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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