A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869301



Internal ID22644236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228891025..228892041hg38UCSC Ensembl
chr1:229026772..229027788hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381017
hg191017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352501
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869301
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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