A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18005654



Internal ID20572695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:87259801..87261000hg38UCSC Ensembl
chr12:87653578..87654777hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6461485
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18005654
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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