A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6411664



Internal ID21069217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127519339..127623628hg38UCSC Ensembl
chr5:126855031..126959320hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38104290
hg19104290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18124623
Samples
Known GenesPRRC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6411664
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer