A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432148



Internal ID21394150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81411868..81414268hg38UCSC Ensembl
chr14:81878212..81880612hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg382401
hg192401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv242n172
Supporting Variantsnssv15752356, nssv15751269, nssv15754458, nssv15745780, nssv15751396, nssv15752671, nssv15753138
SamplesNB08, NB10, BTQ055, MDQ010, NB11, NB07, SMI018
Known GenesSTON2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432148
Frequency
Sample Size15
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer