A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939613



Internal ID22715009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122124162..122124413hg38UCSC Ensembl
chr12:122608709..122608960hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359735
Samples
Known GenesMLXIP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939613
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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