A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480485



Internal ID21138038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70640601..70643100hg38UCSC Ensembl
chr14:71107318..71109817hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180302
Samples
Known GenesTTC9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480485
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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