A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211915



Internal ID20778955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53348601..53390200hg38UCSC Ensembl
chr4:54214768..54256367hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3841600
hg1941600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6395143
Supporting Variants
Samples
Known GenesFIP1L1, SCFD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18211915
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00048


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