A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428268



Internal ID18624718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169812865..169916045hg38UCSC Ensembl
Innerchr1:169782006..169885186hg19UCSC Ensembl
Innerchr1:168048630..168151810hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38103181
hg19103181
hg18103181
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452465, nssv452509, nssv452520, nssv452476, nssv452498, nssv452387, nssv452431, nssv452398, nssv452409, nssv452420, nssv452341, nssv452365, nssv452487, nssv452453, nssv452531, nssv452442, nssv452376, nssv452354
SamplesHGDP00462, HGDP01093, HGDP00463, HGDP01088, HGDP01089, NA18498, HGDP00476, HGDP00450, NA19181, NA19113, NA19225, NA19147, HGDP00984, HGDP00472, HGDP00471, NA19096, HGDP01086, HGDP00449
Known GenesC1orf112, SCYL3
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)nsv428268
Frequency
Sample Size62
Observed Gain3
Observed Loss15
Observed Complex0
Frequencyn/a


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