A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450437



Internal ID18273844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69558411..70865721hg38UCSC Ensembl
Innerchr5:68854238..70161548hg19UCSC Ensembl
Innerchr5:68889994..70197304hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381307311
hg191307311
hg181307311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428117
Supporting Variants
SamplesHGDP00984
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, 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)nssv450437
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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