A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3927749



Internal ID21347818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8864244..8865271hg38UCSC Ensembl
chr12:9016840..9017867hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381028
hg191028
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15182553
SamplesHG002
Known GenesA2ML1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3927749
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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