A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428132



Internal ID18277896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177191316..177375443hg38UCSC Ensembl
Innerchr5:176618317..176802444hg19UCSC Ensembl
Innerchr5:176550923..176735050hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38184128
hg19184128
hg18184128
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450555, nssv450550, nssv450558, nssv450545, nssv450544, nssv450551, nssv450549, nssv450556, nssv450552, nssv450546, nssv450554, nssv450557, nssv450543, nssv450548, nssv450541, nssv450547
SamplesHGDP00450, HGDP00463, HGDP00984, NA19257, NA19108, NA19147, HGDP00476, HGDP01087, HGDP01094, NA19096, HGDP00467, NA18498, NA19225, HGDP00473, HGDP00472, HGDP00471
Known GenesLMAN2, MXD3, NSD1, PRELID1, RAB24, RGS14
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)nsv428132
Frequency
Sample Size62
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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