A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428112



Internal ID18277876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10377..177376hg38UCSC Ensembl
Innerchr1:10377..177417hg19UCSC Ensembl
Innerchr1:377..167280hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38167000
hg19167041
hg18166904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450130
SamplesHGDP01088
Known GenesDDX11L1, FAM138A, FAM138F, LOC100288778, LOC729737, MIR6859-1, MIR6859-2, OR4F5, WASH7P
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)nsv428112
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