A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14433136



Internal ID22176054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241589928..241592198hg38UCSC Ensembl
chr2:242529343..242531613hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382271
hg192271
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184319
Supporting Variants
SamplesHG00514
Known GenesTHAP4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14433136
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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