A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3954670



Internal ID21374739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24251385..24251481hg38UCSC Ensembl
chr2:24474254..24474350hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15178573
SamplesHG002
Known GenesITSN2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3954670
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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