A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886805



Internal ID22661794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62194959..62195198hg38UCSC Ensembl
chr1:62660631..62660870hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374122
Samples
Known GenesL1TD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886805
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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