A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17570395



Internal ID21762438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117612006..117612058hg38UCSC Ensembl
chr7:117252060..117252112hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6001184
Supporting Variants
Samples
Known GenesCFTR
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17570395
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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