A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748668



Internal ID20524695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78391984..78392039hg38UCSC Ensembl
chr5:77687808..77687863hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16261995
Samples
Known GenesSCAMP1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748668
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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