A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3161



Internal ID5086945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:217317096..217351327hg19UCSC Ensembl
Outerchr2:217025341..217059572hg18UCSC Ensembl
Outerchr2:217142602..217176833hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg195209
hg185209
hg175209
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv7618
SamplesNA12156
Known GenesSMARCAL1
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)nsv3161
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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