A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6377973



Internal ID21035526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44689254..45062105hg38UCSC Ensembl
chr5:44689356..45062207hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38372852
hg19372852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214132
Samples
Known GenesMRPS30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6377973
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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