A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18231999



Internal ID20799039
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 StatusS
Merged Variantsnsv6429716
Supporting Variants
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)nssv18231999
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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