A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17383130



Internal ID22441000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77597135..77598049hg38UCSC Ensembl
chr13:78171270..78172184hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38915
hg19915
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936508
Supporting Variants
Samples
Known GenesSCEL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17383130
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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