A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440663



Internal ID22237155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165892144..165892144hg38UCSC Ensembl
chr1:165861381..165861381hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg382354
hg192354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3530605
Supporting Variants
SamplesHG00733
Known GenesUCK2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14440663
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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