A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17122496



Internal ID21496796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176962135..176962135hg38UCSC Ensembl
chr5:176389136..176389136hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5625805
Supporting Variants
SamplesNA19238
Known GenesUIMC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17122496
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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