A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872649



Internal ID22647590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244428584..244428663hg38UCSC Ensembl
chr1:244591886..244591965hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368389
Samples
Known GenesADSS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5872649
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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