A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340968



Internal ID20998521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128693563..128695507hg38UCSC Ensembl
chr2:129451137..129453081hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381945
hg191945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18076322
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340968
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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