A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17063390



Internal ID21491485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220781003..220781003hg38UCSC Ensembl
chr1:220954345..220954345hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5621133
Supporting Variants
SamplesNA19238
Known GenesMARC2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17063390
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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