A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15203356



Internal ID21342160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48443861..48443861hg38UCSC Ensembl
chr7:48483458..48483458hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3954355
Supporting Variants
SamplesHG002
Known GenesABCA13
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15203356
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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