A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931163



Internal ID22706443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53953525..53953622hg38UCSC Ensembl
chr14:54420243..54420340hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376667
Samples
Known GenesBMP4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931163
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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