A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv586n172



Internal ID22814960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127831521..127832088hg38UCSC Ensembl
chr4:128752676..128753243hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4434176, nsv4434175
SamplesNB07, NB09
Known GenesHSPA4L
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv586n172
Frequency
Sample Size15
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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