A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530039



Internal ID20903400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12667449..12667922hg38UCSC Ensembl
chr18:12667448..12667921hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18039416
Samples
Known GenesCEP76, PSMG2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530039
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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