A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2802300



Internal ID21247638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62278315..62278377hg38UCSC Ensembl
chr1:62743987..62744049hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13695739
Samples
Known GenesKANK4
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2802300
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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