A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518761



Internal ID15099368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17297152..17297923hg38UCSC Ensembl
Innerchr8:17154661..17155432hg19UCSC Ensembl
Innerchr8:17199032..17199803hg18UCSC Ensembl
Innerchr8:17199032..17199803hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38772
hg19772
hg18772
hg17772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696211
Samples
Known GenesMTMR7, VPS37A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518761
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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