A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6438239



Internal ID21095792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48253666..48256915hg38UCSC Ensembl
chr10:49461709..49464958hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg383250
hg193250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17979970
Samples
Known GenesFRMPD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6438239
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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