A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5607038



Internal ID21555343
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 StatusM
Merged Variants
Supporting Variantsnssv17110724
SamplesHG03125
Known GenesOSBPL6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5607038
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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