A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428347



Internal ID18278111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58565015..58717588hg38UCSC Ensembl
Innerchr17:56642376..56794949hg19UCSC Ensembl
Innerchr17:53997375..54149948hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38152574
hg19152574
hg18152574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453523
SamplesHGDP00984
Known GenesRAD51C, TEX14
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)nsv428347
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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