A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6315712



Internal ID20848784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196389188..196389788hg38UCSC Ensembl
chr1:196358318..196358918hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18055604
Samples
Known GenesKCNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6315712
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