A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428175



Internal ID18624625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:79467470..79624057hg38UCSC Ensembl
Innerchr7:79096786..79253373hg19UCSC Ensembl
Innerchr7:78934722..79091309hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38156588
hg19156588
hg18156588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451149, nssv451148
SamplesNA19113, HGDP00471
Known GenesMAGI2-AS3
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)nsv428175
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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