A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6413243



Internal ID21070796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72306301..72313000hg38UCSC Ensembl
chr5:71602128..71608827hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg386700
hg196700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18216297
Samples
Known GenesMRPS27
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6413243
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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