A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv41n172



Internal ID22814415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165761963..165762252hg38UCSC Ensembl
chr1:165731200..165731489hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4432985, nsv4432984
SamplesNB12, SMI034, NB08, MDQ045, BTQ038, MDQ010, BTQ016, SMI041, NB11, NB07, MDQ025, NB09
Known GenesTMCO1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv41n172
Frequency
Sample Size15
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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