A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18136253



Internal ID20703293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:98901501..98903100hg38UCSC Ensembl
chr5:98237205..98238804hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403693
Supporting Variants
Samples
Known GenesCHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18136253
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00057


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