A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18053443



Internal ID20620483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158637470..158637594hg38UCSC Ensembl
chr1:158607260..158607384hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330111
Supporting Variants
Samples
Known GenesSPTA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18053443
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00416


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