A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2123



Internal ID5085199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63049477..63072139hg19UCSC Ensembl
Outerchr17:60479939..60502601hg18UCSC Ensembl
Outerchr17:60479939..60502601hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg196044
hg186044
hg176044
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv2972
SamplesNA18555
Known GenesGNA13
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)nsv2123
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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