A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18020229



Internal ID20587269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54610174..54617325hg38UCSC Ensembl
chr14:55076892..55084043hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg387152
hg197152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492573
Supporting Variants
Samples
Known GenesSAMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18020229
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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