A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874085



Internal ID22649035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72109630..72221992hg38UCSC Ensembl
chr1:72575313..72687675hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38112363
hg19112363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373389
Samples
Known GenesNEGR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874085
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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