A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17373752



Internal ID22599421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54876241..54877926hg38UCSC Ensembl
chr1:55341914..55343599hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381686
hg191686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870849
Supporting Variants
Samples
Known GenesDHCR24
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17373752
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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