A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450908



Internal ID18273391
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 StatusS
Merged Variantsnsv428334
Supporting Variants
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)nssv450908
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer