A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17498130



Internal ID22556065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71812326..71814525hg38UCSC Ensembl
chr5:71108153..71110352hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5843411
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17498130
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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