A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428223



Internal ID18277987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:347969..501617hg38UCSC Ensembl
Innerchr1:317720..471368hg19UCSC Ensembl
Innerchr1:307583..461231hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38153649
hg19153649
hg18153649
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450686, nssv450575
SamplesNA18498, HGDP00984
Known GenesLOC100132062, LOC100132287, LOC100133331, OR4F16, OR4F29, OR4F3
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)nsv428223
Frequency
Sample Size62
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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