A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428342



Internal ID18278106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45366188..45573718hg38UCSC Ensembl
Innerchr17:43443554..43651084hg19UCSC Ensembl
Innerchr17:40799337..41006867hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38207531
hg19207531
hg18207531
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453451
SamplesNA19096
Known GenesARHGAP27, LRRC37A4P, MIR4315-1, MIR4315-2, PLEKHM1
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)nsv428342
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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