A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453320



Internal ID18274336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18296767..18543070hg38UCSC Ensembl
Innerchr17:18200081..18446384hg19UCSC Ensembl
Innerchr17:18140806..18387109hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38246304
hg19246304
hg18246304
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428333
Supporting Variants
SamplesHGDP01093
Known GenesCCDC144B, EVPLL, FAM106A, FLJ35934, KRT16P1, LGALS9C, LOC339240, MIR6778, SHMT1, SMCR8, TOP3A, USP32P2
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)nssv453320
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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