A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454313



Internal ID18273422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195478549..196102555hg38UCSC Ensembl
Innerchr3:195201080..195829426hg19UCSC Ensembl
Innerchr3:196682369..197313823hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38624007
hg19628347
hg18631455
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428430
Supporting Variants
SamplesHGDP00467
Known GenesAPOD, MIR5692C1, MIR570, MIR6829, MUC20, MUC4, PPP1R2, SDHAP1, SDHAP2, TFRC, TNK2
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)nssv454313
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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