A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17439443



Internal ID22497313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117645585..117650526hg38UCSC Ensembl
chr7:117285639..117290580hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg384942
hg194942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5914268
Supporting Variants
Samples
Known GenesCFTR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17439443
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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