A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16984723



Internal ID57202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43824838..43828831hg38UCSC Ensembl
chr6:43792575..43796568hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg383994
hg193994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470654
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16984723
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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