A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3690109



Internal ID18641704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143516839..143611680hg38UCSC Ensembl
Innerchr8:144599009..144693850hg19UCSC Ensembl
Innerchr8:144670152..144764993hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3894842
hg1994842
hg1894842
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1024508
Supporting Variants
Samples
Known GenesEEF1D, GSDMD, MROH6, NAPRT1, PYCRL, TIGD5, ZC3H3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3690109
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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