A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17023288



Internal ID83242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70186961..70199736hg38UCSC Ensembl
chr9:72801877..72814652hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3812776
hg1912776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478996
Supporting Variants
Samples
Known GenesMAMDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17023288
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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