A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5895372



Internal ID22670454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139963217..139967451hg38UCSC Ensembl
chr4:140884371..140888605hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg384235
hg194235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17426513
Samples
Known GenesMAML3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5895372
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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