A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17144559



Internal ID21410334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124602188..124602188hg38UCSC Ensembl
chr8:125614429..125614429hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5642599
Supporting Variants
SamplesHG00512
Known GenesMTSS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17144559
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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