A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6492461



Internal ID21150014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112356560..112369087hg38UCSC Ensembl
chr12:112794364..112806891hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3812528
hg1912528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997008
Samples
Known GenesHECTD4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6492461
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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