A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473344



Internal ID21130897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54523538..54524148hg38UCSC Ensembl
chr12:54917322..54917932hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38611
hg19611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001506
Samples
Known GenesNCKAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473344
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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