A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17152995



Internal ID21450065
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 StatusS
Merged Variantsnsv5565326
Supporting Variants
SamplesHG01114
Known GenesSKIV2L2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17152995
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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