A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434593



Internal ID21396595
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 Variantsdgv669n172
Supporting Variantsnssv15746758, nssv15747529, nssv15749273
SamplesNB12, NB11, NB09
Known GenesMAPK9
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434593
Frequency
Sample Size15
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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