A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6484988



Internal ID21142541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22772265..22776701hg38UCSC Ensembl
chr14:23241474..23245910hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg384437
hg194437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18016098
Samples
Known GenesSLC7A7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6484988
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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