A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999324



Internal ID17292276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:130293055..130353654hg38UCSC Ensembl
Outerchr8:131305301..131365900hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3860600
hg1960600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv949983
Supporting Variants
SamplesBILGI_BIOE
Known GenesASAP1, ASAP1-IT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999324
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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