A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17839718



Internal ID22023361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117552128..117552128hg38UCSC Ensembl
chr7:117192182..117192182hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6239624
Supporting Variants
Samples
Known GenesCFTR
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17839718
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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