A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028731



Internal ID18771262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12035719..12697234hg38UCSC Ensembl
Innerchr8:11893228..12554743hg19UCSC Ensembl
Innerchr8:11930637..12599114hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38661516
hg19661516
hg18668478
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7016n100
Supporting Variantsnssv3754255
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)nsv1028731
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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