A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199264



Internal ID20766304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111283301..111317600hg38UCSC Ensembl
chr1:111825923..111860222hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3834300
hg1934300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6324413
Supporting Variants
Samples
Known GenesCHIA, CHIAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199264
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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