A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432813



Internal ID21394815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32953095..32954094hg38UCSC Ensembl
chr19:33444001..33445000hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15751631, nssv15752413, nssv15753885, nssv15754204, nssv15750474, nssv15748698, nssv15747942, nssv15747289, nssv15750846, nssv15750753, nssv15751185, nssv15752750, nssv15749456, nssv15754690
SamplesNB12, SMI034, NB08, MDQ045, BTQ038, NB10, BTQ055, MDQ010, BTQ016, NB11, NB07, SMI018, MDQ025, NB09
Known GenesCEP89
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432813
Frequency
Sample Size15
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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