A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18065527



Internal ID20632567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86433623..86434168hg38UCSC Ensembl
chr1:86899306..86899851hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38546
hg19546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331800
Supporting Variants
Samples
Known GenesCLCA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18065527
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00029


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