A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6540218



Internal ID20913510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37287222..37834905hg38UCSC Ensembl
chr22:37683263..38230912hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38547684
hg19547650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18074904
Samples
Known GenesANKRD54, CARD10, CDC42EP1, CYTH4, ELFN2, GALR3, GCAT, GGA1, H1F0, LGALS1, LGALS2, MFNG, NOL12, PDXP, SH3BP1, TRIOBP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6540218
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