A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192577



Internal ID20759617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:343446..395202hg38UCSC Ensembl
chr16:393446..445202hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3851757
hg1951757
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6513715
Supporting Variants
Samples
Known GenesAXIN1, LOC100134368, MRPL28, TMEM8A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192577
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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