A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887963



Internal ID22662962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55329778..55330600hg38UCSC Ensembl
chr5:54625606..54626428hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38823
hg19823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410199
Samples
Known GenesSKIV2L2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887963
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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