A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17448641



Internal ID22506511
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 StatusS
Merged Variantsnsv5900534
Supporting Variants
Samples
Known GenesSRSF3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17448641
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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