A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344511



Internal ID21002064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:124376679..124401260hg38UCSC Ensembl
chr2:125134256..125158837hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3824582
hg1924582
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207591
Samples
Known GenesCNTNAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344511
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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