A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6503998



Internal ID20877256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:45485464..45621902hg38UCSC Ensembl
chr15:45777662..45914100hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38136439
hg19136439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184582
Samples
Known GenesBLOC1S6, HMGN2P46, SLC30A4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6503998
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