A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4369



Internal ID15539096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50135960..50153726hg38UCSC Ensembl
Outerchr19:50639217..50656983hg19UCSC Ensembl
Outerchr19:55331029..55348795hg18UCSC Ensembl
Outerchr19:55331029..55348795hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3815894
hg1915894
hg1815894
hg1715894
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2526
Supporting Variants
SamplesNA12878
Known GenesIZUMO2, SNAR-B1, SNAR-B2, SNAR-D
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)nssv4369
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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