A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428371



Internal ID18624821
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453763, nssv453765, nssv453762
SamplesHGDP00462, HGDP00472, HGDP00471
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)nsv428371
Frequency
Sample Size62
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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