A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334769



Internal ID20867957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246927003..246928075hg38UCSC Ensembl
chr1:247090305..247091377hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381073
hg191073
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18059884
Samples
Known GenesAHCTF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334769
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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