A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv723n172



Internal ID22815097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157308969..157315968hg38UCSC Ensembl
chr6:157730001..157737000hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg387000
hg197000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4434797, nsv4434798
SamplesNB12, SMI034, NB08, MDQ045, BTQ038, NB10, BTQ055, MDQ010, BTQ016, SMI041, NB11, NB07, SMI018, MDQ025, NB09
Known GenesTMEM242
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv723n172
Frequency
Sample Size15
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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