A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428329



Internal ID18624779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:71942441..72240448hg38UCSC Ensembl
Innerchr16:71976344..72274347hg19UCSC Ensembl
Innerchr16:70533845..70831848hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg38298008
hg19298004
hg18298004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453263, nssv453260, nssv453258, nssv453262, nssv453261, nssv453259, nssv453265
SamplesHGDP00462, NA19181, NA19113, NA19108, HGDP01094, HGDP00472, NA19096
Known GenesDHODH, DHX38, HP, HPR, PKD1L3, PMFBP1, TXNL4B
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)nsv428329
Frequency
Sample Size62
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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