A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18019111



Internal ID20586151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50646342..50658362hg38UCSC Ensembl
chr14:51113060..51125080hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3812021
hg1912021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6476399
Supporting Variants
Samples
Known GenesSAV1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18019111
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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