A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511597



Internal ID15851022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21415555..21417011hg38UCSC Ensembl
Outerchr17:21415509..21418123hg38UCSC Ensembl
Innerchr17:21318867..21320323hg19UCSC Ensembl
Outerchr17:21318821..21321435hg19UCSC Ensembl
Innerchr17:21259460..21260916hg18UCSC Ensembl
Outerchr17:21259414..21262028hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382615
hg192615
hg182615
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626226
Samples1
Known GenesKCNJ12, KCNJ18
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511597
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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