A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17148505



Internal ID21415112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:81760484..81760484hg38UCSC Ensembl
chr6:82470201..82470201hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5634126
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17148505
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer