A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201698



Internal ID20768739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179196148..179201219hg38UCSC Ensembl
chr1:179165283..179170354hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg385072
hg195072
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318323
Supporting Variants
Samples
Known GenesABL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201698
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00304


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