A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428362



Internal ID18624812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8741916..8939770hg38UCSC Ensembl
Innerchr19:8852561..9050446hg19UCSC Ensembl
Innerchr19:8713561..8911446hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38197855
hg19197886
hg18197886
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453645, nssv453622, nssv453640, nssv453643, nssv453644, nssv453648, nssv453619, nssv453652, nssv453649, nssv453654, nssv453636, nssv453621, nssv453641, nssv453638, nssv453637, nssv453651, nssv453618, nssv453646, nssv453647, nssv453639, nssv453650
SamplesHGDP01087, HGDP00462, HGDP01093, HGDP00463, HGDP01088, HGDP01089, NA18916, NA18498, HGDP00476, NA19189, HGDP00473, HGDP00467, NA19181, NA19113, NA19225, NA19147, HGDP00984, HGDP00472, HGDP00471, HGDP00478, HGDP00449
Known GenesMBD3L1, MUC16, ZNF558
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)nsv428362
Frequency
Sample Size62
Observed Gain15
Observed Loss6
Observed Complex0
Frequencyn/a


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