A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450452



Internal ID18274074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69558411..71500057hg38UCSC Ensembl
Innerchr5:68854238..70795884hg19UCSC Ensembl
Innerchr5:68889994..70831640hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381941647
hg191941647
hg181941647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428117
Supporting Variants
SamplesHGDP01087
Known GenesBDP1, GTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, NAIP, PMCHL2, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
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)nssv450452
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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