A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15188060



Internal ID21326892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174937747..174937747hg38UCSC Ensembl
chr1:174906884..174906884hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381094
hg191094
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3952886
Supporting Variants
SamplesHG002
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15188060
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