A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14361641



Internal ID22129848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25106560..25107633hg38UCSC Ensembl
chr12:25259494..25260567hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381074
hg191074
Variant TypeOTHER complex substitution
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526724
Supporting Variants
SamplesHG00513
Known GenesLRMP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Commentscomplex variant
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14361641
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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