A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428357



Internal ID18278121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248336807..248714122hg38UCSC Ensembl
Innerchr1:248500109..248877423hg19UCSC Ensembl
Innerchr1:246566732..246944046hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38377316
hg19377315
hg18377315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453509, nssv453419, nssv453452, nssv453441, nssv453476, nssv453408, nssv453487, nssv453397, nssv453465, nssv453242, nssv453430, nssv453498
SamplesHGDP01093, HGDP00463, HGDP01089, NA18498, HGDP00476, HGDP00460, HGDP00473, HGDP00986, NA19113, NA19257, HGDP00471, HGDP01086
Known GenesOR14C36, OR14I1, OR2G6, OR2T1, OR2T10, OR2T11, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6
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)nsv428357
Frequency
Sample Size62
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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