A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185396



Internal ID21324201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171983398..171983398hg38UCSC Ensembl
chr1:171952538..171952538hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3954826
Supporting Variants
SamplesHG002
Known GenesDNM3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185396
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