A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480690



Internal ID21138243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21339397..21340606hg38UCSC Ensembl
chr14:21807556..21808765hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18016658
Samples
Known GenesRPGRIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480690
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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