A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17383286



Internal ID22441156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51330902..51337134hg38UCSC Ensembl
chr1:51796574..51802806hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg386233
hg196233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5876744
Supporting Variants
Samples
Known GenesTTC39A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17383286
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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