A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17490045



Internal ID22547966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185184027..185186816hg38UCSC Ensembl
chr3:184901815..184904604hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg382790
hg192790
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5835702
Supporting Variants
Samples
Known GenesEHHADH-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17490045
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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