A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180348



Internal ID20747388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1328481..1564234hg38UCSC Ensembl
chr12:1437647..1673400hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38235754
hg19235754
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470171
Supporting Variants
Samples
Known GenesERC1, LINC00942
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180348
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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