A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18197956



Internal ID20764996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79701266..80118275hg38UCSC Ensembl
chr18:77461266..77876158hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38417010
hg19414893
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6518927
Supporting Variants
Samples
Known GenesADNP2, CTDP1, HSBP1L1, KCNG2, PQLC1, RBFA, RBFADN, TXNL4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18197956
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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