A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1464



Internal ID15544240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50135608..50143930hg38UCSC Ensembl
Outerchr19:50638865..50647187hg19UCSC Ensembl
Outerchr19:55330677..55338999hg18UCSC Ensembl
Outerchr19:55330677..55338999hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg389381
hg199381
hg189381
hg179381
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2526
Supporting Variants
SamplesNA19240
Known GenesSNAR-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)nssv1464
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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