A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203101



Internal ID20770141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40533601..40715200hg38UCSC Ensembl
chr1:40999273..41180872hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38181600
hg19181600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325006
Supporting Variants
Samples
Known GenesNFYC, NFYC-AS1, RIMS3, ZNF684
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203101
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00036


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