A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450435



Internal ID18274941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69347454..70347472hg38UCSC Ensembl
Innerchr5:68643281..69643299hg19UCSC Ensembl
Innerchr5:68679037..69679055hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381000019
hg191000019
hg181000019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428117
Supporting Variants
SamplesNA19147
Known GenesAK6, GTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC647859, MARVELD2, OCLN, RAD17, SERF1A, SERF1B, SMA4, SMN1, SMN2, TAF9
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)nssv450435
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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