A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346743



Internal ID21004296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119726994..119731509hg38UCSC Ensembl
chr2:120484570..120489085hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg384516
hg194516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18075891
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346743
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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