A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14420219



Internal ID22157721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9406117..9406171hg38UCSC Ensembl
chr2:9546246..9546300hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184983
Supporting Variants
SamplesHG00514
Known GenesITGB1BP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14420219
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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