A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2553



Internal ID15200430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55626189..55658848hg38UCSC Ensembl
Outerchr19:56137555..56170214hg19UCSC Ensembl
Outerchr19:60829367..60862026hg18UCSC Ensembl
Outerchr19:60829367..60862026hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg386610
hg196610
hg186610
hg176610
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5760
SamplesNA19129
Known GenesCCDC106, U2AF2, ZNF580, ZNF581
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)nsv2553
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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