A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450430



Internal ID18273110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69347454..69606860hg38UCSC Ensembl
Innerchr5:68643281..68902687hg19UCSC Ensembl
Innerchr5:68679037..68938443hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38259407
hg19259407
hg18259407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428117
Supporting Variants
SamplesHGDP00450
Known GenesAK6, GTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, MARVELD2, OCLN, RAD17, SMA4, 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)nssv450430
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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