A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448234



Internal ID22114412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:107368450..107368850hg38UCSC Ensembl
chr8:108380678..108381078hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766370
Samples
Known GenesANGPT1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448234
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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