A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18049630



Internal ID20616670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100910020..100910443hg38UCSC Ensembl
chr1:101375576..101375999hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328096
Supporting Variants
Samples
Known GenesSLC30A7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18049630
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00145


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