A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319290



Internal ID20852383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183499201..183501000hg38UCSC Ensembl
chr1:183468336..183470135hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18054703
Samples
Known GenesSMG7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319290
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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