A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18009701



Internal ID20576741
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 StatusS
Merged Variantsnsv6493355
Supporting Variants
Samples
Known GenesALG11, ATP7B, NEK5, UTP14C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18009701
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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