A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327677



Internal ID20860818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234431895..234433098hg38UCSC Ensembl
chr1:234567641..234568844hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381204
hg191204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202388
Samples
Known GenesTARBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327677
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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