A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17142574



Internal ID21450981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:20619165..20619165hg38UCSC Ensembl
chr7:20658788..20658788hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5636632
Supporting Variants
SamplesHG01505
Known GenesABCB5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17142574
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