A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871347



Internal ID22646285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211791718..211792485hg38UCSC Ensembl
chr1:211965060..211965827hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38768
hg19768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357901
Samples
Known GenesLPGAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871347
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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