A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512481



Internal ID15851906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21417933..21422812hg38UCSC Ensembl
Outerchr17:21321245..21326124hg19UCSC Ensembl
Outerchr17:21261838..21266717hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384880
hg194880
hg184880
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625080
Samples1
Known GenesKCNJ12
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512481
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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