A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18028274



Internal ID20595314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10555138..10559254hg38UCSC Ensembl
chr16:10648995..10653111hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg384117
hg194117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6499580
Supporting Variants
Samples
Known GenesEMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18028274
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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