A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2801633



Internal ID21246971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55003043..55003043hg38UCSC Ensembl
chr1:55468716..55468716hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13686838, nssv13681942
Samples
Known GenesBSND
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2801633
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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