A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3940124



Internal ID21360193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9953329..9953378hg38UCSC Ensembl
chr12:10105928..10105977hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15181915
SamplesHG002
Known GenesCLEC12A
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3940124
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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