A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868036



Internal ID22642971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166944117..166945396hg38UCSC Ensembl
chr1:166913354..166914633hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg381280
hg191280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359214
Samples
Known GenesILDR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868036
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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