A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18018730



Internal ID20585770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:44931730..45030621hg38UCSC Ensembl
chr14:45400933..45499824hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3898892
hg1998892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477459
Supporting Variants
Samples
Known GenesFAM179B, KLHL28
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18018730
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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