A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528302



Internal ID15108909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:5482078..5493377hg38UCSC Ensembl
Innerchr17:5385398..5396697hg19UCSC Ensembl
Innerchr17:5326122..5337421hg18UCSC Ensembl
Innerchr17:5326122..5337421hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3811300
hg1911300
hg1811300
hg1711300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704878
Samples
Known GenesDERL2, MIS12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528302
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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