A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17064300



Internal ID21457552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26194990..26194990hg38UCSC Ensembl
chr1:26521481..26521481hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38999
hg19999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5615169
Supporting Variants
SamplesHG02587
Known GenesCATSPER4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17064300
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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