A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202827



Internal ID20769867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25223901..25361200hg38UCSC Ensembl
chr1:25550392..25687691hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38137300
hg19137300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319333
Supporting Variants
Samples
Known GenesC1orf63, RHD, SYF2, TMEM50A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202827
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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