A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440706



Internal ID22237194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174937747..174938841hg38UCSC Ensembl
chr1:174906884..174907978hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381095
hg191095
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3176962
Supporting Variants
SamplesHG00733
Known GenesRABGAP1L
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14440706
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