A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869554



Internal ID22644489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11041398..11041596hg38UCSC Ensembl
chr1:11101455..11101653hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353862
Samples
Known GenesMASP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869554
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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