A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060521



Internal ID20627561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43193001..43194800hg38UCSC Ensembl
chr1:43658672..43660471hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326519
Supporting Variants
Samples
Known GenesWDR65
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060521
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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