A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433016



Internal ID21395018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197924889..197925184hg38UCSC Ensembl
chr1:197894019..197894314hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15752085, nssv15751202, nssv15751415, nssv15745584, nssv15749240, nssv15749035, nssv15746616, nssv15754245, nssv15750415
SamplesNB12, SMI034, NB08, NB10, BTQ016, SMI041, NB11, SMI018, NB09
Known GenesLHX9
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433016
Frequency
Sample Size15
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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