A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905988



Internal ID22681182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60824008..60824105hg38UCSC Ensembl
chr5:60119835..60119932hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17413132
Samples
Known GenesELOVL7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905988
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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