A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895598



Internal ID171232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206691426..206691505hg38UCSC Ensembl
chr1:206864771..206864850hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444921
Supporting Variants
Samples
Known GenesMAPKAPK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895598
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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