A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18141222



Internal ID20708262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148362006..148371349hg38UCSC Ensembl
chr6:148683142..148692485hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg389344
hg199344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6617556
Supporting Variants
Samples
Known GenesSASH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18141222
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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