A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453429



Internal ID18273623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37855347..38600766hg38UCSC Ensembl
Innerchr17:33289079..34010545hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38745420
hg18721467
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428341
Supporting Variants
SamplesHGDP00473
Known GenesARHGAP23, GPR179, LOC440434, MRPL45, SOCS7, SRCIN1, TBC1D3, TBC1D3C, TBC1D3F, YWHAEP7
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)nssv453429
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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