A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238570



Internal ID22374198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36505308..36505562hg38UCSC Ensembl
chr2:36732451..36732705hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14408200
SamplesNA19240
Known GenesCRIM1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving MER satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238570
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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