A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999353



Internal ID16945619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143866633..144125597hg38UCSC Ensembl
Outerchr8:144940801..145180500hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38258965
hg19239700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950015
Supporting Variants
SamplesBILGI_BIOE
Known GenesCYC1, EPPK1, EXOSC4, GPAA1, GRINA, KIAA1875, MAF1, MIR661, MIR6846, MIR6847, OPLAH, PARP10, PLEC, SHARPIN, SPATC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999353
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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