A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342971



Internal ID21000524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104069201..104070400hg38UCSC Ensembl
chr2:104685659..104686858hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18075088
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342971
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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