A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17421981



Internal ID22479851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56842878..56848131hg38UCSC Ensembl
chr5:56138705..56143958hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385254
hg195254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887811
Supporting Variants
Samples
Known GenesMAP3K1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17421981
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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