A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201922



Internal ID20768963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1648568..1715728hg38UCSC Ensembl
chr1:1583934..1647167hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3867161
hg1963234
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330038
Supporting Variants
Samples
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201922
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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