A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899116



Internal ID22674242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69268588..69268877hg38UCSC Ensembl
chr5:68564415..68564704hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17425440
Samples
Known GenesCDK7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899116
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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