A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6491308



Internal ID21148861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122584172..122585985hg38UCSC Ensembl
chr12:123068719..123070532hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381814
hg191814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17998719
Samples
Known GenesKNTC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6491308
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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