A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323058



Internal ID20856174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103563801..103567800hg38UCSC Ensembl
chr1:104106423..104110422hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200329
Samples
Known GenesAMY2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323058
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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