A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16982129



Internal ID55447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37231810..37232534hg38UCSC Ensembl
chr6:37199586..37200310hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38725
hg19725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461248
Supporting Variants
Samples
Known GenesTMEM217
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16982129
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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