A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394624



Internal ID22327633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219330625..219330808hg38UCSC Ensembl
chr2:220195347..220195530hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3183325
Supporting Variants
SamplesNA19240
Known GenesRESP18
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14394624
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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