A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6493355



Internal ID21150908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52004352..52126037hg38UCSC Ensembl
chr13:52578488..52700173hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38121686
hg19121686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18009701
Samples
Known GenesALG11, ATP7B, NEK5, UTP14C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6493355
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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