A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5035



Internal ID15549804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141722352..141743762hg38UCSC Ensembl
Outerchr5:141101919..141123329hg19UCSC Ensembl
Outerchr5:141082103..141103513hg18UCSC Ensembl
Outerchr5:141082103..141103513hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3817005
hg1917005
hg1817005
hg1717005
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3389
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)nsv5035
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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