A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023987



Internal ID18766520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7541457hg38UCSC Ensembl
Innerchr8:7214599..7398979hg19UCSC Ensembl
Innerchr8:7202009..7386389hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38184381
hg19184381
hg18184381
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6923n100
Supporting Variantsnssv3678534, nssv3678535, nssv3754149, nssv3754150
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, PRR23D1, PRR23D2, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023987
Frequency
Sample Size29084
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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