A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6486701



Internal ID21144254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112747495..112753623hg38UCSC Ensembl
chr12:113185300..113191428hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg386129
hg196129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996818
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6486701
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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