A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428334



Internal ID18278098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:874371..1220569hg38UCSC Ensembl
Innerchr1:809751..1155949hg19UCSC Ensembl
Innerchr1:799614..1145812hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38346199
hg19346199
hg18346199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450908
SamplesHGDP00467
Known GenesAGRN, C1orf159, C1orf170, FAM41C, HES4, ISG15, KLHL17, LOC100130417, LOC254099, MIR200A, MIR200B, MIR429, NOC2L, PLEKHN1, RNF223, SAMD11, SDF4, TNFRSF18, TNFRSF4, TTLL10
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)nsv428334
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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