A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334539



Internal ID20867726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103547172..103566195hg38UCSC Ensembl
chr1:104089794..104108817hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3819024
hg1919024
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200326
Samples
Known GenesAMY2B, RNPC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334539
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer