A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018903



Internal ID18761436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143542054..143616975hg38UCSC Ensembl
Innerchr8:144624224..144699145hg19UCSC Ensembl
Innerchr8:144695367..144770288hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3874922
hg1974922
hg1874922
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7336n100
Supporting Variantsnssv3690117
Samples
Known GenesEEF1D, GSDMD, MROH6, NAPRT1, PYCRL, TIGD5, TSTA3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018903
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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