A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110724



Internal ID21468019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178327083..178327083hg38UCSC Ensembl
chr2:179191810..179191810hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5607038
Supporting Variants
SamplesHG03125
Known GenesOSBPL6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110724
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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