A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4734496



Internal ID20510432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215615371..215615505hg38UCSC Ensembl
chr1:215788713..215788847hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16261559
Samples
Known GenesKCTD3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4734496
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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