A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201453



Internal ID20768493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52451582..52455021hg38UCSC Ensembl
chr1:52917254..52920693hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383440
hg193440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323359
Supporting Variants
Samples
Known GenesZCCHC11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201453
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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