A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18017673



Internal ID20584713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30640501..30641000hg38UCSC Ensembl
chr14:31109707..31110206hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6489885
Supporting Variants
Samples
Known GenesSCFD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18017673
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00026


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