A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201720



Internal ID20768761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180500801..180511300hg38UCSC Ensembl
chr1:180469936..180480435hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3810500
hg1910500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317963
Supporting Variants
Samples
Known GenesACBD6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201720
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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