A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5829008



Internal ID22603943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206610763..206612962hg38UCSC Ensembl
chr1:206784116..206786306hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382200
hg192191
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17452556, nssv17459745
Samples
Known GenesEIF2D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5829008
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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