A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2548



Internal ID15547111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54239379..54261184hg38UCSC Ensembl
Outerchr19:54743255..54765032hg19UCSC Ensembl
Outerchr19:59435067..59456844hg18UCSC Ensembl
Outerchr19:59435067..59456844hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3817969
hg1917969
hg1817969
hg1717969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5758, nssv4374
SamplesNA12878, NA19129
Known GenesLILRA6, LILRB5
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)nsv2548
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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