A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408417



Internal ID22285832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241589448..241592001hg38UCSC Ensembl
chr2:242528863..242531416hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382554
hg192554
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181938
Supporting Variants
SamplesNA19240
Known GenesTHAP4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14408417
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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