A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428181



Internal ID18277945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100962999..101105965hg38UCSC Ensembl
Innerchr7:100606044..100749246hg19UCSC Ensembl
Innerchr7:100392764..100535966hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38142967
hg19143203
hg18143203
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451178, nssv451179, nssv451180, nssv451181, nssv451176, nssv451182, nssv451177
SamplesHGDP01093, HGDP01088, NA18498, HGDP00476, NA19113, HGDP00471, HGDP01086
Known GenesMUC12, MUC17, TRIM56
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)nsv428181
Frequency
Sample Size62
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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