A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6407119



Internal ID21064672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53105601..53113000hg38UCSC Ensembl
chr5:52401431..52408830hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg387400
hg197400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214017
Samples
Known GenesLOC257396, MOCS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6407119
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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