A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5896597



Internal ID22671691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139322964..139325435hg38UCSC Ensembl
chr5:138658653..138661124hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg382472
hg192472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428741
Samples
Known GenesMATR3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5896597
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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