A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17421722



Internal ID22479592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60898966..60899127hg38UCSC Ensembl
chr5:60194793..60194954hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906703
Supporting Variants
Samples
Known GenesERCC8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17421722
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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