A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317243



Internal ID20850327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185948501..185954600hg38UCSC Ensembl
chr1:185917633..185923732hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg386100
hg196100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv461n223
Supporting Variantsnssv18201782
Samples
Known GenesHMCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317243
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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