A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3685373



Internal ID18636968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22969562..23544783hg38UCSC Ensembl
Innerchr8:22827075..23402296hg19UCSC Ensembl
Innerchr8:22883020..23458241hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38575222
hg19575222
hg18575222
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1017570
Supporting Variants
Samples
Known GenesCHMP7, ENTPD4, LOC100507156, LOC254896, LOC286059, LOC389641, LOXL2, R3HCC1, RHOBTB2, SLC25A37, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3685373
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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