A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449767



Internal ID22221534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213162191..213162763hg38UCSC Ensembl
chr2:214026915..214027487hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38573
hg19573
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3175777
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)nssv14449767
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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