A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6476778



Internal ID21134331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23542537..23546556hg38UCSC Ensembl
chr14:24011746..24015765hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg384020
hg194020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18016738
Samples
Known GenesTHTPA, ZFHX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6476778
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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