A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453604



Internal ID18274845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:258319..423101hg38UCSC Ensembl
Innerchr19:258319..423101hg19UCSC Ensembl
Innerchr19:209319..374101hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38164783
hg19164783
hg18164783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428360
Supporting Variants
SamplesNA19113
Known GenesC2CD4C, MIER2, PPAP2C, SHC2, THEG
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)nssv453604
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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