A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319575



Internal ID20852670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185744106..185757031hg38UCSC Ensembl
chr1:185713238..185726163hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3812926
hg1912926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18054521
Samples
Known GenesHMCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319575
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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