A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6456



Internal ID5089593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:2168853..2178719hg19UCSC Ensembl
Outerchr9:2158853..2168719hg18UCSC Ensembl
Outerchr9:2158853..2168719hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg196559
hg186559
hg176559
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv10650
SamplesNA18956
Known GenesSMARCA2
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv6456
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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