A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428189



Internal ID18277953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148188433..148354134hg38UCSC Ensembl
Innerchr7:147885525..148051226hg19UCSC Ensembl
Innerchr7:147516458..147682159hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38165702
hg19165702
hg18165702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451348, nssv451349
SamplesNA19189, NA19113
Known GenesCNTNAP2, MIR548T
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)nsv428189
Frequency
Sample Size62
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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