A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18057268



Internal ID20624308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209707189..209707604hg38UCSC Ensembl
chr1:209880534..209880949hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326096
Supporting Variants
Samples
Known GenesHSD11B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18057268
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00049


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