A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2117



Internal ID15546680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:64131854..64176238hg38UCSC Ensembl
Outerchr17:62209214..62253598hg19UCSC Ensembl
Outerchr17:59562946..59607330hg18UCSC Ensembl
Outerchr17:59562946..59607330hg17UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3844385
hg1944385
hg1844385
hg1744385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4641
SamplesNA19129
Known GenesSNORA76, SNORD104, TEX2
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)nsv2117
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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