A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217775



Internal ID20784815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105147698..105627595hg38UCSC Ensembl
chr7:104788145..105268042hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38479898
hg19479898
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6618598
Supporting Variants
Samples
Known GenesATXN7L1, EFCAB10, PUS7, RINT1, SRPK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217775
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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