A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6315597



Internal ID20848668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94478801..94479600hg38UCSC Ensembl
chr1:94944357..94945156hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18065632
Samples
Known GenesABCD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6315597
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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