A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6321427



Internal ID20854532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201094949..201099008hg38UCSC Ensembl
chr1:201064077..201068136hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384060
hg194060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18056932
Samples
Known GenesCACNA1S
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6321427
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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