A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428177



Internal ID18277941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:87228237..87404851hg38UCSC Ensembl
Innerchr7:86857553..87034167hg19UCSC Ensembl
Innerchr7:86695489..86872103hg18UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38176615
hg19176615
hg18176615
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451159, nssv451154, nssv451155, nssv451157, nssv451156, nssv451162, nssv451160, nssv451161, nssv451158
SamplesHGDP01093, NA19189, HGDP00450, HGDP00473, HGDP00986, NA19257, NA19108, HGDP00471, HGDP00449
Known GenesABCB4, CROT, TP53TG1
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)nsv428177
Frequency
Sample Size62
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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