A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522495



Internal ID15103102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31203691..31291972hg38UCSC Ensembl
Innerchr17:29530709..29618990hg19UCSC Ensembl
Innerchr17:26554835..26643116hg18UCSC Ensembl
Innerchr17:26554835..26643116hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3888282
hg1988282
hg1888282
hg1788282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705863
Samples
Known GenesNF1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522495
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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