A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5916073



Internal ID22691292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125445832..125447653hg38UCSC Ensembl
chr9:128208111..128209932hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381822
hg191822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433024
Samples
Known GenesMAPKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5916073
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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