A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14461290



Internal ID22213869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1978052..1983176hg38UCSC Ensembl
chr1:1909491..1914615hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg385125
hg195125
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187598
Supporting Variants
SamplesHG00733
Known GenesKIAA1751
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14461290
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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