A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949988



Internal ID16952175
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 StatusM
Merged Variants
Supporting Variantsnssv2999329
SamplesBILGI_BIOE
Known GenesSLA, TG
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949988
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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