A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977955



Internal ID52708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2058293..2059656hg38UCSC Ensembl
chr6:2058527..2059890hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg381364
hg191364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470110
Supporting Variants
Samples
Known GenesGMDS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977955
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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