A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031433



Internal ID18773967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7141698..7838727hg38UCSC Ensembl
Innerchr8:6999220..7696249hg19UCSC Ensembl
Innerchr8:6986630..7733659hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38697030
hg19697030
hg18747030
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6882n100
Supporting Variantsnssv3677510
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4B, FAM66B, FAM90A10P, FAM90A7P, LINC00965, PRR23D1, PRR23D2, SPAG11B, USP17L1P, USP17L4, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031433
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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