A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452587



Internal ID18621258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191720116..192045482hg38UCSC Ensembl
Innerchr1:191689246..192014612hg19UCSC Ensembl
Innerchr1:189955869..190281235hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38325367
hg19325367
hg18325367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428279
Supporting Variants
SamplesNA18916
Known Genes
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)nssv452587
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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