A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5643



Internal ID15543792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18363638..18377305hg38UCSC Ensembl
Outerchr17:18266952..18280619hg19UCSC Ensembl
Outerchr17:18207677..18221344hg18UCSC Ensembl
Outerchr17:18207677..18221344hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg388220
hg198220
hg188220
hg178220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1998
Supporting Variants
SamplesNA19129
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)nssv5643
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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