A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201696



Internal ID20768737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178991652..179464149hg38UCSC Ensembl
chr1:178960787..179433284hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38472498
hg19472498
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333714
Supporting Variants
Samples
Known GenesABL2, AXDND1, FAM20B, SOAT1, TOR3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201696
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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