A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2114



Internal ID15199991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:62609400..62626568hg38UCSC Ensembl
Outerchr17:60686761..60703929hg19UCSC Ensembl
Outerchr17:58040493..58057661hg18UCSC Ensembl
Outerchr17:58040493..58057661hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg386597
hg196597
hg186597
hg176597
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7342
SamplesNA12156
Known GenesTLK2
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)nsv2114
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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