A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6429716



Internal ID21087269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22969514..24288515hg38UCSC Ensembl
chr8:22827027..24146028hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg381319002
hg191319002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18231999
Samples
Known GenesCHMP7, ENTPD4, LOC100507156, LOC254896, LOC286059, LOC389641, LOXL2, NKX2-6, NKX3-1, R3HCC1, RHOBTB2, SLC25A37, STC1, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6429716
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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