A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5873874



Internal ID22648823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246002479..246544965hg38UCSC Ensembl
chr1:246165781..246708267hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38542487
hg19542487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357750
Samples
Known GenesLOC255654, SMYD3, TFB2M
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5873874
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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