A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428359



Internal ID18278123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79277548..80255221hg38UCSC Ensembl
Innerchr18:77037548..78013104hg19UCSC Ensembl
Innerchr18:75138536..76114092hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38977674
hg19975557
hg18975557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453602
SamplesHGDP00467
Known GenesADNP2, ATP9B, CTDP1, HSBP1L1, KCNG2, NFATC1, PARD6G, PARD6G-AS1, PQLC1, RBFA, RBFADN, TXNL4A
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)nsv428359
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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