A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999319



Internal ID16945585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:124476360..124489759hg38UCSC Ensembl
Outerchr8:125488601..125502000hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3813400
hg1913400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951466
Supporting Variants
SamplesBILGI_BIOE
Known GenesRNF139, TATDN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999319
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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