A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5080



Internal ID15203168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:154381371..154406233hg38UCSC Ensembl
Outerchr5:153760931..153785793hg19UCSC Ensembl
Outerchr5:153741124..153765986hg18UCSC Ensembl
Outerchr5:153741124..153765986hg17UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg386438
hg196438
hg186438
hg176438
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3396
SamplesNA12878
Known GenesGALNT10, SAP30L-AS1
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)nsv5080
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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