A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv14n172



Internal ID22814388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36958252..36960187hg38UCSC Ensembl
chr1:37423853..37425788hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381936
hg191936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4433125, nsv4433126, nsv4433124, nsv4433123
SamplesNB12, BTQ038, BTQ055, BTQ016, SMI041, NB11, SMI018, NB09
Known GenesGRIK3
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv14n172
Frequency
Sample Size15
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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