A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384348



Internal ID22442218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38988076..38988409hg38UCSC Ensembl
chr13:39562213..39562546hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5945343
Supporting Variants
Samples
Known GenesSTOML3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384348
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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