A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv175n172



Internal ID22814549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71795380..71796867hg38UCSC Ensembl
chr12:72189160..72190647hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381488
hg191488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4431809, nsv4431808
SamplesNB08, MDQ045, BTQ038, BTQ055, MDQ010, BTQ016, SMI041, NB07, SMI018, MDQ025, NB09
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv175n172
Frequency
Sample Size15
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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