A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6484466



Internal ID21142019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23566300..23571547hg38UCSC Ensembl
chr14:24035509..24040756hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg385248
hg195248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18016740
Samples
Known GenesAP1G2, JPH4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6484466
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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