A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2235



Internal ID15541518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50136723..50155745hg38UCSC Ensembl
Outerchr19:50639980..50659002hg19UCSC Ensembl
Outerchr19:55331792..55350814hg18UCSC Ensembl
Outerchr19:55331792..55350814hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3816611
hg1916611
hg1816611
hg1716611
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2526
Supporting Variants
SamplesNA18555
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)nssv2235
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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