A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187331



Internal ID21326162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45134285..45134285hg38UCSC Ensembl
chr21:46554200..46554200hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3929117
Supporting Variants
SamplesHG002
Known GenesADARB1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187331
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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