A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2699



Internal ID15541878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:83909841..83943206hg38UCSC Ensembl
Outerchr5:83205660..83239025hg19UCSC Ensembl
Outerchr5:83241416..83274781hg18UCSC Ensembl
Outerchr5:83241416..83274781hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg386653
hg196653
hg186653
hg176653
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4905
Supporting Variants
SamplesNA18555
Known GenesEDIL3
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)nssv2699
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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