A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178628



Internal ID20745668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30842742..30846488hg38UCSC Ensembl
chr16:30854063..30857809hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383747
hg193747
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6502080
Supporting Variants
Samples
Known GenesBCL7C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178628
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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