A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6322643



Internal ID20855756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121430801..121604200hg38UCSC Ensembl
chr1:121172661..121345998hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38173400
hg19173338
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv322n223
Supporting Variantsnssv18199308
Samples
Known GenesEMBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6322643
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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