A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17138317



Internal ID21418221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120706613..120706613hg38UCSC Ensembl
chr3:120425460..120425460hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5616967
Supporting Variants
SamplesHG00731
Known GenesRABL3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17138317
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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