A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930223



Internal ID22705486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21339397..21340605hg38UCSC Ensembl
chr14:21807556..21808764hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381209
hg191209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375720
Samples
Known GenesRPGRIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930223
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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