A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868513



Internal ID22643448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47174932..47194142hg38UCSC Ensembl
chr1:47640604..47659814hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3819211
hg1919211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382377
Samples
Known GenesLINC00853, PDZK1IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868513
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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