A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030583



Internal ID18773114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7542794..7952372hg38UCSC Ensembl
Innerchr8:7400316..7809894hg19UCSC Ensembl
Innerchr8:7387726..7847304hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38409579
hg19409579
hg18459579
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6948n100
Supporting Variantsnssv3680771, nssv3680770, nssv3680769, nssv3680772, nssv3680768, nssv3753692
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030583
Frequency
Sample Size29084
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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