A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6239624



Internal ID22044234
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 StatusM
Merged Variants
Supporting Variantsnssv17839718
Samples
Known GenesCFTR
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6239624
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer