A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2516



Internal ID15200393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48046715..48080669hg38UCSC Ensembl
Outerchr19:48549972..48583926hg19UCSC Ensembl
Outerchr19:53241784..53275738hg18UCSC Ensembl
Outerchr19:53241784..53275738hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg385484
hg195484
hg185484
hg175484
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7445
SamplesNA12156
Known GenesPLA2G4C
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)nsv2516
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