A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17119930



Internal ID21509833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16535732..16535732hg38UCSC Ensembl
chr5:16535841..16535841hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5642410
Supporting Variants
SamplesNA20847
Known GenesFAM134B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17119930
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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