A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952176



Internal ID16954363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:151701725..151717424hg38UCSC Ensembl
Outerchr1:151674201..151689900hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3815700
hg1915700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997321
SamplesBILGI_BIOE
Known GenesCELF3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952176
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