A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613004



Internal ID21561309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117029204..117029204hg38UCSC Ensembl
chr1:117571826..117571826hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17059798
SamplesHG00732
Known GenesCD101
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613004
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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