A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428341



Internal ID18278105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37855347..38600766hg38UCSC Ensembl
Innerchr17:33289079..34010545hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38745420
hg18721467
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453406, nssv453407, nssv453413, nssv453410, nssv453415, nssv453403, nssv453423, nssv453414, nssv453424, nssv453427, nssv453433, nssv453421, nssv453418, nssv453425, nssv453405, nssv453432, nssv453409, nssv453426, nssv453429, nssv453428, nssv453411, nssv453416, nssv453422, nssv453417, nssv453412, nssv453404, nssv453431, nssv453420
SamplesHGDP00450, HGDP00474, HGDP00463, HGDP00984, NA19257, NA19108, NA19147, HGDP00476, HGDP00462, HGDP01093, HGDP01087, HGDP01094, NA19096, NA18916, NA19181, NA19189, HGDP00467, NA18498, HGDP00986, HGDP01088, HGDP01086, NA19225, NA19113, HGDP00460, HGDP00473, HGDP00449, HGDP00472, HGDP00471
Known GenesARHGAP23, GPR179, LOC440434, MRPL45, SOCS7, SRCIN1, TBC1D3, TBC1D3C, TBC1D3F, YWHAEP7
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)nsv428341
Frequency
Sample Size62
Observed Gain27
Observed Loss1
Observed Complex0
Frequencyn/a


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