A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17426931



Internal ID22484801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56188196..56193598hg38UCSC Ensembl
chr5:55484023..55489425hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385403
hg195403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895305
Supporting Variants
Samples
Known GenesANKRD55
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17426931
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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