A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323453



Internal ID20856571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112533610..112595026hg38UCSC Ensembl
chr1:113076232..113137648hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3861417
hg1961417
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199279
Samples
Known GenesST7L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323453
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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