A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952468



Internal ID16954655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:104137923..104138422hg38UCSC Ensembl
Outerchr12:104531701..104532200hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997337
SamplesBILGI_BIOE
Known GenesNFYB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952468
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