A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9557



Internal ID15539757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50135559..50154567hg38UCSC Ensembl
Outerchr19:50638816..50657824hg19UCSC Ensembl
Outerchr19:55330628..55349636hg18UCSC Ensembl
Outerchr19:55330628..55349636hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3816411
hg1916411
hg1816411
hg1716411
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2526
Supporting Variants
SamplesNA18507
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)nssv9557
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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