A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445552



Internal ID22111731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65426143..65426143hg38UCSC Ensembl
chr1:65891826..65891826hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759316
Samples
Known GenesLEPR, LEPROT
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445552
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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