A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2135



Internal ID15546698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:70587716..70620615hg38UCSC Ensembl
Outerchr17:68583857..68616756hg19UCSC Ensembl
Outerchr17:66095452..66128351hg18UCSC Ensembl
Outerchr17:66095452..66128351hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg386540
hg196540
hg186540
hg176540
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6730
SamplesNA12156
Known Genes
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)nsv2135
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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