A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17081375



Internal ID21466360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49425160..49425160hg38UCSC Ensembl
chr13:49999296..49999296hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382580
hg192580
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5652608
Supporting Variants
SamplesHG03065
Known GenesCAB39L
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17081375
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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