A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320203



Internal ID20853301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47992330..48762028hg38UCSC Ensembl
chr1:48458002..49227700hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38769699
hg19769699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201404
Samples
Known GenesAGBL4, BEND5, SKINTL, SLC5A9, SPATA6, TRABD2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320203
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