A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17140782



Internal ID21470524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7813100..7813100hg38UCSC Ensembl
chr6:7813333..7813333hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5628303
Supporting Variants
SamplesHG03125
Known GenesBMP6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17140782
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