A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001533



Internal ID68625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123996887..123997205hg38UCSC Ensembl
chr7:123636941..123637259hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477535
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001533
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.139662


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