A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4440340



Internal ID22106518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60467464..60468088hg38UCSC Ensembl
chr2:60694599..60695223hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15767747
Samples
Known GenesBCL11A
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4440340
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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