A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1378n223



Internal ID22804346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8085933..8086489hg38UCSC Ensembl
chr12:8238529..8239085hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6587830, nsv6577830
Samples
Known GenesNECAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1378n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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