A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6486285



Internal ID21143838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127940393..127944449hg38UCSC Ensembl
chr12:128424938..128428994hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg384057
hg194057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997509
Samples
Known GenesLINC00507
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6486285
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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