A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950954



Internal ID16953141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:49609255..49617854hg38UCSC Ensembl
Outerchr10:50817301..50825900hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg388600
hg198600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997986
SamplesBILGI_BIOE
Known GenesCHAT, SLC18A3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950954
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