A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5004



Internal ID5090765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132198102..132204820hg19UCSC Ensembl
Outerchr5:132226001..132232719hg18UCSC Ensembl
Outerchr5:132226001..132232719hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg197330
hg187330
hg177330
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv496
SamplesNA19240
Known GenesGDF9, UQCRQ
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)nsv5004
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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