A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5760



Internal ID15196965
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 StatusS
Merged Variantsnsv2553
Supporting Variants
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)nssv5760
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer