A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5876241



Internal ID22651201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37963082..37964601hg38UCSC Ensembl
chr1:38428754..38430273hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381520
hg191520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387264
Samples
Known GenesSF3A3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5876241
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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