A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341739



Internal ID20999292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:124408302..124471547hg38UCSC Ensembl
chr2:125165879..125229124hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3863246
hg1963246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18076425
Samples
Known GenesCNTNAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341739
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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