A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344947



Internal ID21002500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180521001..180524400hg38UCSC Ensembl
chr2:181385728..181389127hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg383400
hg193400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18081082
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344947
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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