A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5746



Internal ID15543668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39885543..39888934hg38UCSC Ensembl
Outerchr19:40376183..40379574hg19UCSC Ensembl
Outerchr19:45068023..45071414hg18UCSC Ensembl
Outerchr19:45068023..45071414hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3821017
hg1921017
hg1821017
hg1721017
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2484
Supporting Variants
SamplesNA19129
Known GenesFCGBP
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)nssv5746
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