A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5003



Internal ID5085370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132180856..132225611hg19UCSC Ensembl
Outerchr5:132208755..132253510hg18UCSC Ensembl
Outerchr5:132208755..132253510hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg194728
hg184728
hg174728
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv2543
SamplesNA18555
Known GenesAFF4, GDF9, LEAP2, 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)nsv5003
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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