A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428236



Internal ID18278000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:86866859..87550005hg38UCSC Ensembl
Innerchr10:88626616..89309762hg19UCSC Ensembl
Innerchr10:88616596..89299742hg18UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38683147
hg19683147
hg18683147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451943, nssv451928, nssv451935, nssv451945, nssv451933, nssv451948, nssv451946, nssv451947, nssv451934, nssv451941, nssv451940, nssv451937, nssv451929, nssv451949, nssv451930, nssv451938, nssv451936, nssv451944, nssv451939, nssv451932
SamplesHGDP01087, HGDP01093, HGDP00463, HGDP01088, HGDP01089, NA18498, NA19189, HGDP00450, HGDP00473, HGDP00986, NA19181, NA19113, NA19257, NA19225, NA19108, NA19147, HGDP01094, HGDP00472, HGDP01086, HGDP00449
Known GenesADIRF, AGAP11, BMPR1A, FAM25A, FAM35A, GLUD1, LINC00864, LOC439994, MINPP1, MIR4678, MMRN2, NUTM2A, NUTM2A-AS1, NUTM2D, SNCG
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)nsv428236
Frequency
Sample Size62
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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