A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433052



Internal ID21395054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224059416..224059876hg38UCSC Ensembl
chr1:224247118..224247578hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg38461
hg19461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv50n172
Supporting Variantsnssv15753375, nssv15748902, nssv15750895, nssv15747675, nssv15748819, nssv15752735, nssv15746070, nssv15746730, nssv15752500, nssv15745900, nssv15751024, nssv15748466
SamplesNB12, SMI034, BTQ038, NB10, BTQ055, MDQ010, BTQ016, SMI041, NB11, NB07, SMI018, NB09
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433052
Frequency
Sample Size15
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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