A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6457231



Internal ID21114784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27127904..27639538hg38UCSC Ensembl
chr12:27280837..27792471hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38511635
hg19511635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000071
Samples
Known GenesARNTL2, PPFIBP1, SMCO2, STK38L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6457231
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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