A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428344



Internal ID18278108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47443008..47687590hg38UCSC Ensembl
Innerchr17:45520374..45764956hg19UCSC Ensembl
Innerchr17:42875373..43119955hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38244583
hg19244583
hg18244583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453483, nssv453482, nssv453478, nssv453486, nssv453481, nssv453479, nssv453490, nssv453480, nssv453484, nssv453489, nssv453488, nssv453485
SamplesHGDP01087, HGDP00463, NA18498, NA19189, HGDP00986, NA19113, NA19257, NA19225, NA19108, HGDP00471, NA19096, HGDP00449
Known GenesKPNB1, MRPL45P2, NPEPPS
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)nsv428344
Frequency
Sample Size62
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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