A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454372



Internal ID18274081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6986421..7268174hg38UCSC Ensembl
Innerchr4:6988148..7269901hg19UCSC Ensembl
Innerchr4:7039049..7320802hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38281754
hg19281754
hg18281754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428436
Supporting Variants
SamplesHGDP01087
Known GenesCCDC96, FLJ36777, GRPEL1, LOC100129931, SORCS2, TADA2B, TBC1D14
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)nssv454372
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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