A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458270



Internal ID21115823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48627901..48629500hg38UCSC Ensembl
chr12:49021684..49023283hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001081
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458270
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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