A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428431



Internal ID18624881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197128182..197316896hg38UCSC Ensembl
Innerchr3:196855053..197043767hg19UCSC Ensembl
Innerchr3:198339450..198528164hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38188715
hg19188715
hg18188715
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454336, nssv454337, nssv454340, nssv454339, nssv454338, nssv454341
SamplesHGDP00462, HGDP00450, NA19113, NA19108, HGDP00471, HGDP00449
Known GenesDLG1, DLG1-AS1, MIR4797
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)nsv428431
Frequency
Sample Size62
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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