A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17404546



Internal ID22462416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148288399..148288399hg38UCSC Ensembl
chr2:149045968..149045968hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5949402
Supporting Variants
Samples
Known GenesMBD5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17404546
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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