A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6070046



Internal ID21979279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117552737..117552737hg38UCSC Ensembl
chr7:117192791..117192791hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17569560
Samples
Known GenesCFTR
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6070046
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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