A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18054136



Internal ID20621176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179456420..179462243hg38UCSC Ensembl
chr1:179425555..179431378hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg385824
hg195824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325665
Supporting Variants
Samples
Known GenesAXDND1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18054136
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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