A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034819



Internal ID18777352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12305218..12385658hg38UCSC Ensembl
Innerchr8:12162727..12243167hg19UCSC Ensembl
Innerchr8:12207096..12287538hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3880441
hg1980441
hg1880443
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7030n100
Supporting Variantsnssv3681996
Samples
Known GenesDEFB130, FAM66A, LOC100133267, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034819
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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