A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6433929



Internal ID21091482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60520627..60523319hg38UCSC Ensembl
chr8:61433186..61435878hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg382693
hg192693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18168681
Samples
Known GenesRAB2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6433929
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