A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023704



Internal ID18766237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52477254..52920103hg38UCSC Ensembl
Innerchr8:53389814..53832663hg19UCSC Ensembl
Innerchr8:53552367..53995216hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38442850
hg19442850
hg18442850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7218n100
Supporting Variantsnssv3687512
Samples
Known GenesFAM150A, RB1CC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023704
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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