A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428195



Internal ID18277959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11884049..12709792hg38UCSC Ensembl
Innerchr8:11741558..12567301hg19UCSC Ensembl
Innerchr8:11778967..12611672hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38825744
hg19825744
hg18832706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451443, nssv451435, nssv451441, nssv451433, nssv451430, nssv451440, nssv451434, nssv451439, nssv451438, nssv451436
SamplesHGDP00462, HGDP01093, HGDP01088, HGDP00450, HGDP00986, NA19113, NA19147, HGDP00984, HGDP00471, HGDP00449
Known GenesDEFB109P1, DEFB130, DEFB134, DEFB135, DEFB136, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
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)nsv428195
Frequency
Sample Size62
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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