A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434996



Internal ID21396998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57436203..60640253hg38UCSC Ensembl
chr6:57301001..57608000hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg383204051
hg19307000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv702n172
Supporting Variantsnssv15751689, nssv15746458
SamplesMDQ010, SMI018
Known GenesPRIM2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434996
Frequency
Sample Size15
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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