A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428438



Internal ID18278202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:10056602..10272155hg38UCSC Ensembl
Innerchr4:10058226..10273779hg19UCSC Ensembl
Innerchr4:9667324..9882877hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38215554
hg19215554
hg18215554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454406, nssv454412, nssv454408, nssv454407, nssv454411
SamplesHGDP00450, HGDP00476, HGDP01093, HGDP01089, NA18498
Known GenesMIR3138, WDR1
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)nsv428438
Frequency
Sample Size62
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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