A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202347



Internal ID20769387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200816945..200890797hg38UCSC Ensembl
chr1:200786073..200859925hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3873853
hg1973853
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316805
Supporting Variants
Samples
Known GenesCAMSAP2, GPR25
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202347
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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