A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18210713



Internal ID20777753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91722701..91796800hg38UCSC Ensembl
chr2:91910727..91984826hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg3874100
hg1974100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339071
Supporting Variants
Samples
Known GenesGGT8P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18210713
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00046


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