A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062296



Internal ID21402416
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 StatusS
Merged Variantsnsv5623744
Supporting Variants
SamplesHG00171
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062296
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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