A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5890005



Internal ID22665029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138955730..138971631hg38UCSC Ensembl
chr5:138291419..138307320hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3815902
hg1915902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424866
Samples
Known GenesSIL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5890005
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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