A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6489613



Internal ID21147166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117635898..117637743hg38UCSC Ensembl
chr12:118073703..118075548hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg381846
hg191846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997202
Samples
Known GenesKSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6489613
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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