A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6329403



Internal ID20862555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95105613..95107141hg38UCSC Ensembl
chr1:95571169..95572697hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg381529
hg191529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202102
Samples
Known GenesTMEM56
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6329403
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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