A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18029269



Internal ID20596309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27238484..27245671hg38UCSC Ensembl
chr16:27249805..27256992hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg387188
hg197188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6504273
Supporting Variants
Samples
Known GenesNSMCE1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18029269
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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