A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323978



Internal ID20857101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92546248..92549947hg38UCSC Ensembl
chr1:93011805..93015504hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18065191
Samples
Known GenesEVI5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323978
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