A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2807503



Internal ID21252841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45414963..45415156hg38UCSC Ensembl
chr2:45642102..45642295hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv176n137
Supporting Variantsnssv13681967
Samples
Known GenesSRBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2807503
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