A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001051



Internal ID20568091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47948178..47954201hg38UCSC Ensembl
chr12:48341961..48347984hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg386024
hg196024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459475
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001051
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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