A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428452



Internal ID18278216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143677706..144210439hg38UCSC Ensembl
Innerchr4:144598859..145131592hg19UCSC Ensembl
Innerchr4:144818309..145351042hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38532734
hg19532734
hg18532734
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450173, nssv450161, nssv450166, nssv450169, nssv450162, nssv450175, nssv450159, nssv450164, nssv450160, nssv450174
SamplesHGDP00474, HGDP00476, HGDP01087, NA19181, HGDP00467, HGDP01088, HGDP00478, NA19113, HGDP00460, HGDP00449
Known GenesFREM3, GYPA, GYPB, GYPE
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)nsv428452
Frequency
Sample Size62
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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