A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450439



Internal ID18273211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69558411..71093885hg38UCSC Ensembl
Innerchr5:68854238..70389712hg19UCSC Ensembl
Innerchr5:68889994..70425468hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381535475
hg191535475
hg181535475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428117
Supporting Variants
SamplesHGDP00460
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, NAIP, 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)nssv450439
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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