A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983274



Internal ID56227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49807548..49838585hg38UCSC Ensembl
chr6:49775261..49806298hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3831038
hg1931038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459192
Supporting Variants
Samples
Known GenesCRISP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983274
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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