A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034304



Internal ID18776838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7783700..7919096hg38UCSC Ensembl
Innerchr8:7641222..7776618hg19UCSC Ensembl
Innerchr8:7678632..7814028hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38135397
hg19135397
hg18135397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6960n100
Supporting Variantsnssv3680898, nssv3680899
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, 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)nsv1034304
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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