A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6400707



Internal ID21058260
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 StatusM
Merged Variants
Supporting Variantsnssv18214090
Samples
Known GenesFAM159B, RGS7BP, SREK1IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6400707
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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