A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959005



Internal ID18864257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99399922..99408922hg38UCSC Ensembl
Outerchr12:99793700..99802700hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg389001
hg199001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118496
Supporting Variants
SamplesKWS1
Known GenesANKS1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959005
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer