A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4443446



Internal ID22109629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149327060..149327300hg38UCSC Ensembl
chr5:148706623..148706863hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15764864
Samples
Known GenesAFAP1L1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4443446
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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