A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020770



Internal ID18763304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..8197726hg38UCSC Ensembl
Innerchr8:7214599..8055248hg19UCSC Ensembl
Innerchr8:7202009..8092658hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38840650
hg19840650
hg18890650
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6915n100
Supporting Variantsnssv3678785, nssv3678786, nssv3754966, nssv3678784
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020770
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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