A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428169



Internal ID18277933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:69556496..69731757hg38UCSC Ensembl
Innerchr7:69021482..69196743hg19UCSC Ensembl
Innerchr7:68659418..68834679hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38175262
hg19175262
hg18175262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451055
SamplesHGDP01094
Known GenesAUTS2, LOC100507468
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)nsv428169
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer