A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948916



Internal ID21368986
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 Variantsnssv15193106
SamplesHG002
Known GenesLEPR, LEPROT
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948916
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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