A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6495635



Internal ID20868829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100548933..100726606hg38UCSC Ensembl
chr14:101015270..101192943hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38177674
hg19177674
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194831
Samples
Known GenesBEGAIN, LINC00523
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6495635
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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