A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6479802



Internal ID21137355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108130799..108132002hg38UCSC Ensembl
chr12:108524576..108525779hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381204
hg191204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996195
Samples
Known GenesWSCD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6479802
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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