A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470140



Internal ID6060066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38840139..39119494hg19UCSC Ensembl
Innerchr19:43531979..43811334hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv546504
SamplesHGDP00599
Known GenesCATSPERG, EIF3K, FAM98C, GGN, MAP4K1, PSMD8, RASGRP4, RYR1, SPRED3
Method
AnalysisOverlapping CNVs were merged. The positions are based on the farthest SNPs observed anomg any individuals with the CNV.
PlatformIllumina HumanHap550 Genotyping BeadChip v1 + v3
CommentsSingle-copy duplication
ReferenceJakobsson et al 2008
Pubmed ID18288195
Accession Number(s)nsv470140
Frequency
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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