A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954980



Internal ID22730205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78895470..78895470hg38UCSC Ensembl
chr4:79816624..79816624hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17419850
Samples
Known GenesBMP2K
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954980
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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