A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14438823



Internal ID22235721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23277272..23284744hg38UCSC Ensembl
chr1:23603765..23611237hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg387473
hg197473
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3173487
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14438823
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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