A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367040



Internal ID22592709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203023843..203023843hg38UCSC Ensembl
chr1:202992971..202992971hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5959161
Supporting Variants
Samples
Known GenesTMEM183A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367040
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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