A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951337



Internal ID17300211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:20763467..20769766hg38UCSC Ensembl
Outerchr12:20916401..20922700hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg386300
hg196300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999693
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951337
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