A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201272



Internal ID20768312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161597001..161629000hg38UCSC Ensembl
chr1:161566791..161598790hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3832000
hg1932000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318862
Supporting Variants
Samples
Known GenesFCGR2C, FCGR3B, HSPA7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201272
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.07781


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