A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4447787



Internal ID22113965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1457328..1457428hg38UCSC Ensembl
chr16:1507329..1507429hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762034
Samples
Known GenesCLCN7
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4447787
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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