A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323322



Internal ID20856439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183934622..183936027hg38UCSC Ensembl
chr1:183903756..183905161hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381406
hg191406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18054396
Samples
Known GenesCOLGALT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323322
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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