A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18016732



Internal ID20583772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23313801..23315700hg38UCSC Ensembl
chr14:23783010..23784909hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6478392
Supporting Variants
Samples
Known GenesBCL2L2-PABPN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18016732
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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