A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323574



Internal ID20856693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236505958..236650203hg38UCSC Ensembl
chr1:236669258..236813503hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38144246
hg19144246
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202476
Samples
Known GenesHEATR1, LGALS8, LGALS8-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323574
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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