A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526270



Internal ID15453563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21380911..21389540hg38UCSC Ensembl
Innerchr17:21284223..21292852hg19UCSC Ensembl
Innerchr17:21224816..21233445hg18UCSC Ensembl
Innerchr17:21224816..21233445hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg388630
hg198630
hg188630
hg178630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702544
Samples
Known GenesKCNJ12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526270
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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