A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480189



Internal ID257699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70092554..70092714hg38UCSC Ensembl
chr9:72707470..72707630hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17023276
Samples
Known GenesMAMDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480189
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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