A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031862



Internal ID19121084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12465354hg38UCSC Ensembl
Innerchr8:12232269..12322863hg19UCSC Ensembl
Innerchr8:12276640..12367234hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3890595
hg1990595
hg1890595
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7050n100
Supporting Variantsnssv3682514, nssv3682508, nssv3682513, nssv3682510, nssv3682509, nssv3682511, nssv3682512, nssv3682517, nssv3682507, nssv3682506, nssv3682515, nssv3682516, nssv3754505
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031862
Frequency
Sample Size11257
Observed Gain9
Observed Loss4
Observed Complex0
Frequencyn/a


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