A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452737



Internal ID18275220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:63040203..63322630hg38UCSC Ensembl
Innerchr15:63332402..63614829hg19UCSC Ensembl
Innerchr15:61119455..61401882hg18UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38282428
hg19282428
hg18282428
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428305
Supporting Variants
SamplesNA19225
Known GenesAPH1B, LACTB, RAB8B, RPS27L, TPM1
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)nssv452737
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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