A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319036



Internal ID20852128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185950101..185953800hg38UCSC Ensembl
chr1:185919233..185922932hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv462n223
Supporting Variantsnssv18054215
Samples
Known GenesHMCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319036
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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