A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6386407



Internal ID21043960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143518623..143560315hg38UCSC Ensembl
chr4:144439776..144481468hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3841693
hg1941693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213083
Samples
Known GenesGUSBP5, SMARCA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6386407
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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