A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887497



Internal ID22662489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181039728..181040992hg38UCSC Ensembl
chr1:181008864..181010128hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381265
hg191265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356425
Samples
Known GenesMR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887497
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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