A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5870440



Internal ID22645376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248592368..248595181hg38UCSC Ensembl
chr1:248755669..248758482hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382814
hg192814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369397
Samples
Known GenesOR2T10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5870440
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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