A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345677



Internal ID21003230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218624066..218627722hg38UCSC Ensembl
chr2:219488789..219492445hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383657
hg193657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18085475
Samples
Known GenesPLCD4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345677
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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