A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18053146



Internal ID20620186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173862958..173864246hg38UCSC Ensembl
chr1:173832096..173833384hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381289
hg191289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331943
Supporting Variants
Samples
Known GenesGAS5, GAS5-AS1, SNORD81
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18053146
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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