A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452842



Internal ID18274419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196827347..196986100hg38UCSC Ensembl
Innerchr1:196796477..196955230hg19UCSC Ensembl
Innerchr1:195063100..195221853hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38158754
hg19158754
hg18158754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428290
Supporting Variants
SamplesHGDP01094
Known GenesCFHR1, CFHR2, CFHR4, CFHR5
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)nssv452842
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