A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472174



Internal ID21129727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99875951..99977686hg38UCSC Ensembl
chr12:100269729..100371464hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38101736
hg19101736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18006713
Samples
Known GenesANKS1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472174
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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