A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428372



Internal ID18278136
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453774, nssv453781, nssv453776, nssv453780, nssv453787, nssv453779, nssv453782, nssv453783, nssv453784, nssv453777, nssv453778, nssv453785
SamplesHGDP00474, HGDP00984, NA19257, NA19108, HGDP01094, NA18916, HGDP01089, HGDP00986, HGDP01086, HGDP00460, HGDP00473, HGDP00449
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)nsv428372
Frequency
Sample Size62
Observed Gain11
Observed Loss1
Observed Complex0
Frequencyn/a


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