A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2089



Internal ID15546652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:52352344..52385631hg38UCSC Ensembl
Outerchr17:50429704..50462991hg19UCSC Ensembl
Outerchr17:47784703..47817990hg18UCSC Ensembl
Outerchr17:47784703..47817990hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg386730
hg196730
hg186730
hg176730
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2180
SamplesNA18555
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)nsv2089
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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