A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917641



Internal ID22692861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9940410..9942235hg38UCSC Ensembl
chr12:10093009..10094834hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381826
hg191826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363281
Samples
Known GenesLOC102467076
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5917641
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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