A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428163



Internal ID18624613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:39087931..39243944hg38UCSC Ensembl
Innerchr7:39127531..39283543hg19UCSC Ensembl
Innerchr7:39094056..39250068hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38156014
hg19156013
hg18156013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450924, nssv450925
SamplesNA19189, NA19113
Known GenesPOU6F2
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)nsv428163
Frequency
Sample Size62
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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