A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453568



Internal ID18275239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81152631..81345362hg38UCSC Ensembl
Innerchr17:79126431..79319162hg19UCSC Ensembl
Innerchr17:76741026..76933757hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38192732
hg19192732
hg18192732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428351
Supporting Variants
SamplesNA19225
Known GenesAATK, AATK-AS1, AZI1, C17orf89, ENTHD2, LINC00482, SLC38A10, TMEM105
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)nssv453568
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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