A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18133948



Internal ID20700988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78180101..78182200hg38UCSC Ensembl
chr5:77475925..77478024hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6396350
Supporting Variants
Samples
Known GenesAP3B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18133948
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00041


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