A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214090



Internal ID20781130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64584324..64732492hg38UCSC Ensembl
chr5:63880151..64028319hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38148169
hg19148169
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6400707
Supporting Variants
Samples
Known GenesFAM159B, RGS7BP, SREK1IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214090
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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