A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978808



Internal ID53256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2043522..2049665hg38UCSC Ensembl
chr6:2043756..2049899hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg386144
hg196144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455015
Supporting Variants
Samples
Known GenesGMDS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978808
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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