A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17138257



Internal ID21506220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122632847..122632930hg38UCSC Ensembl
chr5:121968542..121968625hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5572998
Supporting Variants
SamplesNA19983
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17138257
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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