A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453765



Internal ID18273467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54163847..54366984hg38UCSC Ensembl
Innerchr19:54667579..54878591hg19UCSC Ensembl
Innerchr19:59359391..59570403hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38203138
hg19211013
hg18211013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428371
Supporting Variants
SamplesHGDP00471
Known GenesLAIR1, LILRA3, LILRA4, LILRA5, LILRA6, LILRB2, LILRB3, LILRB5, MBOAT7, MIR4752, RPS9, TMC4, TSEN34
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)nssv453765
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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