A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2552



Internal ID15547115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55467079..55498718hg38UCSC Ensembl
Outerchr19:55978446..56010085hg19UCSC Ensembl
Outerchr19:60670258..60701897hg18UCSC Ensembl
Outerchr19:60670258..60701897hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg387641
hg197641
hg187641
hg177641
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5759
SamplesNA19129
Known GenesNAT14, SSC5D, ZNF628
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)nsv2552
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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