A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18146988



Internal ID20714028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107717320..107718841hg38UCSC Ensembl
chr7:107357765..107359286hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg381522
hg191522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6609834
Supporting Variants
Samples
Known GenesSLC26A4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18146988
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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