A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428215



Internal ID18277979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:38973511..39397784hg38UCSC Ensembl
Innerchr9:65467680..65758917hg19UCSC Ensembl
Innerchr9:65207500..65498737hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg38424274
hg19291238
hg18291238
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451733, nssv451734
SamplesNA19189, NA19113
Known GenesFAM74A2, FAM74A4, SPATA31A5, SPATA31A7
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)nsv428215
Frequency
Sample Size62
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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