A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428296



Internal ID18278060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19954442..22472558hg38UCSC Ensembl
Innerchr15:20159695..22876631hg19UCSC Ensembl
Innerchr15:18419709..20428072hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382518117
hg192716937
hg182008364
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452591, nssv452521, nssv452555, nssv452588, nssv452549, nssv452592, nssv452539, nssv452535, nssv452585, nssv452557, nssv452596, nssv452597, nssv452528, nssv452543, nssv452541, nssv452563, nssv452565, nssv452590, nssv452562, nssv452536, nssv452544, nssv452550, nssv452538, nssv452552, nssv452546, nssv452554, nssv452534, nssv452537, nssv452527, nssv452530, nssv452551, nssv452545, nssv452595, nssv452548, nssv452547, nssv452558, nssv452559, nssv452560, nssv452586, nssv452561, nssv452566, nssv452529, nssv452556, nssv452540
SamplesHGDP00450, HGDP00474, HGDP00463, HGDP00984, NA19257, NA19108, NA19147, HGDP00462, HGDP01093, HGDP01087, HGDP01094, NA19096, NA18916, NA19181, HGDP01089, NA19189, HGDP00467, NA18498, HGDP00986, HGDP01088, HGDP01086, NA19225, NA19113, HGDP00460, HGDP00473, HGDP00449, HGDP00472, HGDP00471
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L1, GOLGA6L6, GOLGA8CP, GOLGA8DP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3, TUBGCP5
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)nsv428296
Frequency
Sample Size62
Observed Gain17
Observed Loss14
Observed Complex0
Frequencyn/a


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