A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023065



Internal ID18765598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7414647..7528213hg38UCSC Ensembl
Innerchr8:7272169..7385735hg19UCSC Ensembl
Innerchr8:7259579..7373145hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38113567
hg19113567
hg18113567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6939n100
Supporting Variantsnssv3680046
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023065
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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