A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480016



Internal ID21137569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116657893..116662320hg38UCSC Ensembl
chr12:117095698..117100125hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg384428
hg194428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997159
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480016
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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