A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026976



Internal ID18769508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12092030..12585534hg38UCSC Ensembl
Innerchr8:11949539..12443043hg19UCSC Ensembl
Innerchr8:11986948..12487414hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38493505
hg19493505
hg18500467
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7018n100
Supporting Variantsnssv3681805, nssv3754265, nssv3681809, nssv3754264, nssv3681815, nssv3681810, nssv3681807, nssv3681812, nssv3681804, nssv3681811, nssv3681806, nssv3681816, nssv3681813, nssv3681818, nssv3754267, nssv3681808, nssv3754266, nssv3681814, nssv3681817
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026976
Frequency
Sample Size29084
Observed Gain17
Observed Loss2
Observed Complex0
Frequencyn/a


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