A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451109



Internal ID18274540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76044436..76173362hg38UCSC Ensembl
Innerchr7:75673754..75802680hg19UCSC Ensembl
Innerchr7:75511690..75640616hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38128927
hg19128927
hg18128927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428173
Supporting Variants
SamplesNA18498
Known GenesMDH2, STYXL1
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)nssv451109
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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