A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450169



Internal ID18273447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143773822..144122231hg38UCSC Ensembl
Innerchr4:144694975..145043384hg19UCSC Ensembl
Innerchr4:144914425..145262834hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38348410
hg19348410
hg18348410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428452
Supporting Variants
SamplesHGDP00467
Known GenesGYPA, 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)nssv450169
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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