A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6333636



Internal ID20866816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121434121..121584029hg38UCSC Ensembl
chr1:121175980..121325827hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38149909
hg19149848
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv322n223
Supporting Variantsnssv18199312
Samples
Known GenesEMBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6333636
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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