A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6490639



Internal ID21148192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126572659..126843185hg38UCSC Ensembl
chr12:127057205..127327731hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38270527
hg19270527
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183197
Samples
Known GenesLINC00943, LINC00944
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6490639
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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