A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452575



Internal ID18273146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2622539..3235926hg38UCSC Ensembl
Innerchr1:2553978..3152490hg19UCSC Ensembl
Innerchr1:2543838..3142350hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38613388
hg19598513
hg18598513
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428399
Supporting Variants
SamplesHGDP00450
Known GenesACTRT2, LINC00982, MIR4251, MMEL1, PRDM16, TTC34
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)nssv452575
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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