A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18130440



Internal ID20697480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:36195732..36196433hg38UCSC Ensembl
chr5:36195834..36196535hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6376780
Supporting Variants
Samples
Known GenesNADK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18130440
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00021


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