A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015868



Internal ID18758402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7312955..8102036hg38UCSC Ensembl
Innerchr8:7170477..7959558hg19UCSC Ensembl
Innerchr8:7157887..7996968hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38789082
hg19789082
hg18839082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6912n100
Supporting Variantsnssv3677810
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, 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)nsv1015868
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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