A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977864



Internal ID52633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1780846..1790339hg38UCSC Ensembl
chr6:1781080..1790573hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg389494
hg199494
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470656
Supporting Variants
Samples
Known GenesGMDS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977864
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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