A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17423053



Internal ID22480923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139926731..139936051hg38UCSC Ensembl
chr4:140847885..140857205hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg389321
hg199321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5889842
Supporting Variants
Samples
Known GenesMAML3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17423053
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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