A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428129



Internal ID18277893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150641519..150906180hg38UCSC Ensembl
Innerchr5:150021081..150285742hg19UCSC Ensembl
Innerchr5:150001274..150265935hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38264662
hg19264662
hg18264662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450525, nssv450519, nssv450513, nssv450512, nssv450511, nssv450517, nssv450515, nssv450526, nssv450514, nssv450507, nssv450521, nssv450522, nssv450516, nssv450518, nssv450523, nssv450510, nssv450524, nssv450508
SamplesHGDP00450, HGDP00474, HGDP00463, HGDP00984, NA19108, HGDP00476, HGDP00462, HGDP01087, NA19096, NA18916, NA19181, NA19189, HGDP00986, HGDP01088, NA19113, HGDP00460, HGDP00449, HGDP00472
Known GenesDCTN4, IRGM, MYOZ3, RBM22, SMIM3, SYNPO, ZNF300
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)nsv428129
Frequency
Sample Size62
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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