A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978402



Internal ID52986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2281370..2281424hg38UCSC Ensembl
chr6:2281604..2281658hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461399
Supporting Variants
Samples
Known GenesGMDS-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978402
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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