A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434595



Internal ID21396597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180300001..180301000hg38UCSC Ensembl
chr5:179727001..179728000hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15751468, nssv15748786, nssv15750579, nssv15749576
SamplesSMI034, NB08, MDQ045, NB09
Known GenesGFPT2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434595
Frequency
Sample Size15
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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