A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5672047



Internal ID21620352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32433902..32433902hg38UCSC Ensembl
chr21:33806210..33806210hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17118496
SamplesHG00731
Known GenesEVA1C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5672047
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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