A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17061754



Internal ID21476737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167483013..167483013hg38UCSC Ensembl
chr1:167452250..167452250hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5619023
Supporting Variants
SamplesHG03486
Known GenesCD247
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17061754
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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