A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003427



Internal ID69907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:122816841..122822673hg38UCSC Ensembl
chr7:122456895..122462727hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg385833
hg195833
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6147289
Supporting Variants
Samples
Known GenesCADPS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003427
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00921


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