A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830678



Internal ID22605613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84987836..85022965hg38UCSC Ensembl
chr1:85453519..85488648hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3835130
hg1935130
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17481818
Samples
Known GenesMCOLN2, MCOLN3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830678
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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