A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347374



Internal ID21004927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191845200..191845699hg38UCSC Ensembl
chr2:192709926..192710425hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18081473
Samples
Known GenesSDPR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347374
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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