A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17496591



Internal ID22554525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32259974..32261173hg38UCSC Ensembl
chr5:32260080..32261279hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5842395
Supporting Variants
Samples
Known GenesMTMR12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17496591
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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