A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030638



Internal ID18773169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7529664hg38UCSC Ensembl
Innerchr8:7250368..7387186hg19UCSC Ensembl
Innerchr8:7237778..7374596hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38136819
hg19136819
hg18136819
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6928n100
Supporting Variantsnssv3678992, nssv3678990, nssv3678991
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)nsv1030638
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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