A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3175715



Internal ID22333512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241569308..241573903hg38UCSC Ensembl
chr2:242508723..242513318hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384596
hg194596
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14408413, nssv14408414
SamplesNA19240
Known GenesBOK
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3175715
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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