A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5623744



Internal ID21572049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212116530..212116530hg38UCSC Ensembl
chr1:212289872..212289872hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062296
SamplesHG00171
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5623744
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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