A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17122163



Internal ID21470771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144448067..144448067hg38UCSC Ensembl
chr5:143827630..143827630hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5638932
Supporting Variants
SamplesHG03125
Known GenesKCTD16
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17122163
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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