A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872688



Internal ID22647629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183580466..183582197hg38UCSC Ensembl
chr1:183549601..183551332hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381732
hg191732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353529
Samples
Known GenesNCF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5872688
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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