A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981795



Internal ID55215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49850504..49850555hg38UCSC Ensembl
chr6:49818217..49818268hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400469
Supporting Variants
Samples
Known GenesCRISP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981795
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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