A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv908644



Internal ID6270571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:56847945..57344181hg19UCSC Ensembl
Outerchr17:56803028..57371432hg19UCSC Ensembl
Innerchr17:54202944..54698963hg18UCSC Ensembl
Outerchr17:54158027..54726214hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1598847
SamplesIS40819
Known GenesGDPD1, MIR301A, MIR454, PPM1E, PRR11, RAD51C, SKA2, SMG8, TRIM37
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv908644
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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