A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450434



Internal ID18274524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69347454..70185562hg38UCSC Ensembl
Innerchr5:68643281..69481389hg19UCSC Ensembl
Innerchr5:68679037..69517145hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38838109
hg19838109
hg18838109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428117
Supporting Variants
SamplesNA18498
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)nssv450434
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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