A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347487



Internal ID21005040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241679894..241694941hg38UCSC Ensembl
chr2:242619309..242634356hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3815048
hg1915048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209023
Samples
Known GenesDTYMK
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347487
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