A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999329



Internal ID16945595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:133071956..133084056hg38UCSC Ensembl
Outerchr8:134084201..134096300hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3812101
hg1912100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv949988
Supporting Variants
SamplesBILGI_BIOE
Known GenesSLA, TG
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999329
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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