A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17452972



Internal ID22510845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185948306..185953744hg38UCSC Ensembl
chr1:185917438..185922876hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg385439
hg195439
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5828670
Supporting Variants
Samples
Known GenesHMCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17452972
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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