A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951490



Internal ID22726850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58698102..58698102hg38UCSC Ensembl
chr1:59163774..59163774hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388354
Samples
Known GenesMYSM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951490
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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