A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2131



Internal ID15200008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:70090782..70386177hg38UCSC Ensembl
Outerchr17:68086923..68382318hg19UCSC Ensembl
Outerchr17:65598518..65893913hg18UCSC Ensembl
Outerchr17:65598518..65893913hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38295396
hg19295396
hg18295396
hg17295396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10977
SamplesNA15510
Known GenesKCNJ16, KCNJ2, KCNJ2-AS1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv2131
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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