A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952467



Internal ID16954654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:100715223..100718122hg38UCSC Ensembl
Outerchr12:101109001..101111900hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382900
hg192900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997336
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952467
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