A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14422925



Internal ID22161675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14119561..14119947hg38UCSC Ensembl
chr3:14161061..14161447hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3188567
Supporting Variants
SamplesHG00514
Known GenesCHCHD4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14422925
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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