A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv908257



Internal ID6270184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40912760..40934266hg19UCSC Ensembl
Outerchr17:40908364..40939200hg19UCSC Ensembl
Innerchr17:38166286..38187792hg18UCSC Ensembl
Outerchr17:38161890..38192726hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1510204
SamplesSP54956
Known GenesLOC100190938, RAMP2, VPS25, WNK4
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv908257
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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