A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179948



Internal ID20746988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22508401..23226900hg38UCSC Ensembl
chr15:22646194..23364695hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38718500
hg19718502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6505909
Supporting Variants
Samples
Known GenesCYFIP1, GOLGA6L1, GOLGA8DP, GOLGA8I, HERC2P2, LOC283683, MIR4509-1, MIR4509-2, MIR4509-3, NIPA1, NIPA2, TUBGCP5, WHAMMP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179948
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00221


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