A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17518516



Internal ID21842875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45503361..45503417hg38UCSC Ensembl
chr1:45969033..45969089hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5984341
Supporting Variants
Samples
Known GenesMMACHC
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17518516
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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