A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481054



Internal ID22538958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54844449..54847978hg38UCSC Ensembl
chr1:55310122..55313651hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383530
hg193530
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830376
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481054
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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