A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5491830



Internal ID269058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70146404..70148984hg38UCSC Ensembl
chr9:72761320..72763900hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg382581
hg192581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17023280
Samples
Known GenesMAMDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5491830
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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