A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830362



Internal ID22605297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51313167..51317512hg38UCSC Ensembl
chr1:51778839..51783184hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384346
hg194346
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17480495
Samples
Known GenesTTC39A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830362
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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