A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478310



Internal ID21135863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50252401..50260300hg38UCSC Ensembl
chr14:50719119..50727018hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg387900
hg197900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2154n223
Supporting Variantsnssv18019737
Samples
Known GenesL2HGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478310
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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