A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428173



Internal ID18277937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75934531..76173362hg38UCSC Ensembl
Innerchr7:75563849..75802680hg19UCSC Ensembl
Innerchr7:75401785..75640616hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38238832
hg19238832
hg18238832
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451101, nssv451109
SamplesNA19181, NA18498
Known GenesMDH2, POR, SNORA14A, STYXL1, TMEM120A
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)nsv428173
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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