A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030268



Internal ID19119487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7880901hg38UCSC Ensembl
Innerchr8:7250368..7738423hg19UCSC Ensembl
Innerchr8:7237778..7775833hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38488056
hg19488056
hg18538056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6935n100
Supporting Variantsnssv3679068, nssv3679071, nssv3679074, nssv3679070, nssv3755066, nssv3679077, nssv3679076, nssv3679063, nssv3679073, nssv3679061, nssv3679065, nssv3679064, nssv3679075, nssv3679067, nssv3679066, nssv3679062, nssv3679072, nssv3679069, nssv3755067, nssv3755065
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, 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)nsv1030268
Frequency
Sample Size11257
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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