A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983261



Internal ID56218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49690434..49880145hg38UCSC Ensembl
chr6:49658147..49847858hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38189712
hg19189712
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473625
Supporting Variants
Samples
Known GenesCRISP1, CRISP2, CRISP3, PGK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983261
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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