A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv870827



Internal ID6277838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:20957431..21324933hg19UCSC Ensembl
Outerchr1:20951359..21337313hg19UCSC Ensembl
Innerchr1:20830018..21197520hg18UCSC Ensembl
Outerchr1:20823946..21209900hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1558419
SamplesMS23257
Known GenesDDOST, EIF4G3, HP1BP3, KIF17, PINK1, SH2D5
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv870827
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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