A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878446



Internal ID22653411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1742246..1991840hg38UCSC Ensembl
chr1:1673685..1923279hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38249595
hg19249595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358650
Samples
Known GenesCALML6, GNB1, KIAA1751, NADK, SLC35E2, TMEM52
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878446
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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