A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4278



Internal ID15539005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:54480681..54515799hg38UCSC Ensembl
Outerchr17:52558042..52593160hg19UCSC Ensembl
Outerchr17:49913041..49948159hg18UCSC Ensembl
Outerchr17:49913041..49948159hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg384610
hg194610
hg184610
hg174610
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2097
Supporting Variants
SamplesNA12878
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)nssv4278
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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