A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6493050



Internal ID21150603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109969163..109973501hg38UCSC Ensembl
chr12:110406968..110411306hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg384339
hg194339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996891
Samples
Known GenesGIT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6493050
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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