A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6476231



Internal ID21133784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50303642..50304732hg38UCSC Ensembl
chr14:50770360..50771450hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg381091
hg191091
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18019742
Samples
Known GenesL2HGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6476231
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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