A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344184



Internal ID21001737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48941136..49187242hg38UCSC Ensembl
chr2:49168275..49414381hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38246107
hg19246107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086068
Samples
Known GenesFSHR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344184
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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