A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428134



Internal ID18277898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:60001..653718hg38UCSC Ensembl
Innerchr6:60001..653718hg19UCSC Ensembl
Innerchr6:5001..598718hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38593718
hg19593718
hg18593718
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450593, nssv450594, nssv450582, nssv450601, nssv450580, nssv450583, nssv450581, nssv450588, nssv450602, nssv450584, nssv450597, nssv450579, nssv450586, nssv450592, nssv450578, nssv450596, nssv450590, nssv450591, nssv450600, nssv450595, nssv450603, nssv450599, nssv450589, nssv450585
SamplesHGDP01087, HGDP01093, HGDP00463, HGDP01088, HGDP01089, NA18916, NA18498, HGDP00476, NA19189, HGDP00460, HGDP00450, HGDP00986, HGDP00467, NA19181, NA19113, NA19257, NA19108, NA19147, HGDP01094, HGDP00984, HGDP00474, HGDP00471, NA19096, HGDP00449
Known GenesDUSP22, EXOC2, IRF4
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)nsv428134
Frequency
Sample Size62
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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