A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5039



Internal ID15549808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:142489667..142523087hg38UCSC Ensembl
Outerchr5:141869232..141902652hg19UCSC Ensembl
Outerchr5:141849416..141882836hg18UCSC Ensembl
Outerchr5:141849416..141882836hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg387563
hg197563
hg187563
hg177563
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv500
SamplesNA19240
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)nsv5039
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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