A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440953



Internal ID22237413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41382200..41382400hg38UCSC Ensembl
chr1:41847872..41848072hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3188584
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)nssv14440953
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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