A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453776



Internal ID18273212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54596370..54954956hg38UCSC Ensembl
Innerchr19:55107835..55466324hg19UCSC Ensembl
Innerchr19:59799647..60158136hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38358587
hg19358490
hg18358490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428372
Supporting Variants
SamplesHGDP00460
Known GenesFCAR, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LILRA1, LILRB1, LILRB4, LILRP2, LOC100287534, MIR8061, NCR1, NLRP7
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)nssv453776
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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