A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5897496



Internal ID22672600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80249053..80249540hg38UCSC Ensembl
chr5:79544872..79545359hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428701
Samples
Known GenesSERINC5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5897496
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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