A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv669n172



Internal ID22815043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180286147..180286723hg38UCSC Ensembl
chr5:179713147..179713723hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38577
hg19577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4434594, nsv4434593
SamplesNB12, NB08, NB11, NB09
Known GenesMAPK9
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv669n172
Frequency
Sample Size15
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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