A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450842



Internal ID18273933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103549696..103909380hg38UCSC Ensembl
Innerchr1:104092318..104452002hg19UCSC Ensembl
Innerchr1:103893841..104253525hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38359685
hg19359685
hg18359685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428157
Supporting Variants
SamplesHGDP00986
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, RNPC3
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)nssv450842
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