A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv182n172



Internal ID22814556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104975006..104979901hg38UCSC Ensembl
chr12:105368784..105373679hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg384896
hg194896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4431624, nsv4431623, nsv4431622, nsv4431625
SamplesNB12, NB08, MDQ045, NB10, MDQ010, SMI041, NB11, SMI018, MDQ025, NB09
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv182n172
Frequency
Sample Size15
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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