A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512502



Internal ID15505241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76298541..76301859hg38UCSC Ensembl
Outerchr17:74294622..74297940hg19UCSC Ensembl
Outerchr17:71806217..71809535hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg383319
hg193319
hg183319
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625103
Samples1
Known GenesQRICH2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512502
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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