A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886



Internal ID5090750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:103242713..103274557hg19UCSC Ensembl
Outerchr7:103029949..103061793hg18UCSC Ensembl
Outerchr7:102836664..102868508hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg198176
hg188176
hg178176
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1680
SamplesNA18555
Known GenesRELN
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)nsv5886
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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