A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031624



Internal ID19120846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12376119..12513862hg38UCSC Ensembl
Innerchr8:12233628..12371371hg19UCSC Ensembl
Innerchr8:12277999..12415742hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38137744
hg19137744
hg18137744
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7051n100
Supporting Variantsnssv3663734
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)nsv1031624
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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