A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5926464



Internal ID22701691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125596331..125603858hg38UCSC Ensembl
chr9:128358610..128366137hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg387528
hg197528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17443320
Samples
Known GenesMAPKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5926464
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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