A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450125



Internal ID22245342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:150591004..150591909hg38UCSC Ensembl
chr2:151447518..151448423hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38906
hg19906
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187531
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)nssv14450125
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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