A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341961



Internal ID20999514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28550610..28554397hg38UCSC Ensembl
chr2:28773477..28777264hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg383788
hg193788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18088120
Samples
Known GenesPLB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341961
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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