A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478969



Internal ID21136522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128554275..128566358hg38UCSC Ensembl
chr12:129038820..129050903hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3812084
hg1912084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997542
Samples
Known GenesTMEM132C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478969
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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