A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18002310



Internal ID20569350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6448592..6449678hg38UCSC Ensembl
chr12:6557758..6558844hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6462542
Supporting Variants
Samples
Known GenesCD27, CD27-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18002310
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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