A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17369711



Internal ID22595380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59131751..59132016hg38UCSC Ensembl
chr1:59597423..59597688hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5871489
Supporting Variants
Samples
Known GenesHSD52
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17369711
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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