A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18002162



Internal ID20569202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51663302..51667572hg38UCSC Ensembl
chr12:52057086..52061356hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384271
hg194271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6467160
Supporting Variants
Samples
Known GenesSCN8A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18002162
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00051


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