A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028558



Internal ID19117776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12616361hg38UCSC Ensembl
Innerchr8:12239823..12473870hg19UCSC Ensembl
Innerchr8:12284194..12518241hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38234048
hg19234048
hg18234048
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7065n100
Supporting Variantsnssv3664816, nssv3664815
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028558
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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