A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201929



Internal ID20768970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1650928..1717340hg38UCSC Ensembl
chr1:1584547..1648779hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3866413
hg1964233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333486
Supporting Variants
Samples
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201929
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00163


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