A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17088418



Internal ID21403640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38702601..38702658hg38UCSC Ensembl
chr13:39276738..39276795hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5602172
Supporting Variants
SamplesHG00171
Known GenesFREM2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17088418
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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