A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18049628



Internal ID20616668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100904028..100904459hg38UCSC Ensembl
chr1:101369584..101370015hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316807
Supporting Variants
Samples
Known GenesSLC30A7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18049628
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0006


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