A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021652



Internal ID18764186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7838727..7919637hg38UCSC Ensembl
Innerchr8:7696249..7777159hg19UCSC Ensembl
Innerchr8:7733659..7814569hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3880911
hg1980911
hg1880911
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6965n100
Supporting Variantsnssv3680914, nssv3680911, nssv3680912, nssv3680913, nssv3753710, nssv3680915
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB4A, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021652
Frequency
Sample Size29084
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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