A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216625



Internal ID20783665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77596501..77883300hg38UCSC Ensembl
chr5:76892326..77179124hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38286800
hg19286799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408582
Supporting Variants
Samples
Known GenesOTP, TBCA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216625
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00087


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer