A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3680270



Internal ID18631865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7439806..7542882hg38UCSC Ensembl
Innerchr8:7297328..7400404hg19UCSC Ensembl
Innerchr8:7284738..7387814hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38103077
hg19103077
hg18103077
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1033679
Supporting Variants
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3680270
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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