A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6315609



Internal ID20848680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247516801..247534200hg38UCSC Ensembl
chr1:247680103..247697502hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3817400
hg1917400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv582n223
Supporting Variantsnssv18201298
Samples
Known GenesGCSAML, GCSAML-AS1, OR2C3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6315609
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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