A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035005



Internal ID18777536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7312955..8197726hg38UCSC Ensembl
Innerchr8:7170477..8055248hg19UCSC Ensembl
Innerchr8:7157887..8092658hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38884772
hg19884772
hg18934772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6912n100
Supporting Variantsnssv3677819, nssv3677818
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)nsv1035005
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer