A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428348



Internal ID18278112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59918286..60081801hg38UCSC Ensembl
Innerchr17:57995647..58159162hg19UCSC Ensembl
Innerchr17:55350429..55513944hg18UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg38163516
hg19163516
hg18163516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453530, nssv453529, nssv453527, nssv453525, nssv453524, nssv453528, nssv453526
SamplesHGDP01087, HGDP01088, NA18498, NA19189, NA19113, NA19257, NA19096
Known GenesHEATR6, MIR4737, RNFT1, RPS6KB1, TBC1D3P1-DHX40P1
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)nsv428348
Frequency
Sample Size62
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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