A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204445



Internal ID20771485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77351687..77356025hg38UCSC Ensembl
chr1:77817372..77821710hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384339
hg194339
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6320707
Supporting Variants
Samples
Known GenesAK5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204445
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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