A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917



Internal ID5087270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:117272658..117304975hg19UCSC Ensembl
Outerchr7:117059894..117092211hg18UCSC Ensembl
Outerchr7:116866609..116898926hg17UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg197182
hg187182
hg177182
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv10577
SamplesNA18956
Known GenesCFTR
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)nsv5917
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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