A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434028



Internal ID21396030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196897130..196899129hg38UCSC Ensembl
chr3:196624001..196626000hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15753739, nssv15754281, nssv15752991, nssv15751755, nssv15750295, nssv15753041, nssv15754521, nssv15746651, nssv15752218, nssv15747728, nssv15749772, nssv15748012, nssv15750332
SamplesNB12, NB08, MDQ045, BTQ038, NB10, BTQ055, MDQ010, SMI041, NB11, NB07, SMI018, MDQ025, NB09
Known GenesSENP5
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434028
Frequency
Sample Size15
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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