A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900534



Internal ID22675677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36598641..36598764hg38UCSC Ensembl
chr6:36566418..36566541hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17448641
Samples
Known GenesSRSF3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900534
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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