A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450214



Internal ID18274319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185328666..185492417hg38UCSC Ensembl
Innerchr4:186249820..186413571hg19UCSC Ensembl
Innerchr4:186486814..186650565hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38163752
hg19163752
hg18163752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428456
Supporting Variants
SamplesHGDP01093
Known GenesANKRD37, C4orf47, CCDC110, LRP2BP, SNX25, UFSP2
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nssv450214
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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