A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4442069



Internal ID22108252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50959667..50959667hg38UCSC Ensembl
chr19:51462923..51462923hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38459
hg19459
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759534
Samples
Known GenesKLK6
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4442069
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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