A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3754358



Internal ID18705953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12305218..12412191hg38UCSC Ensembl
Innerchr8:12162727..12269700hg19UCSC Ensembl
Innerchr8:12207096..12314071hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38106974
hg19106974
hg18106976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1024078
Supporting Variants
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, LOC100133267, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3754358
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