A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034702



Internal ID18777235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12077151..12585534hg38UCSC Ensembl
Innerchr8:11934660..12443043hg19UCSC Ensembl
Innerchr8:11972069..12487414hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38508384
hg19508384
hg18515346
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7019n100
Supporting Variantsnssv3681773, nssv3681772, nssv3754259, nssv3681774, nssv3681775, nssv3681776, nssv3754260, nssv3681778, nssv3681777, nssv3681779, nssv3681780, nssv3754261
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)nsv1034702
Frequency
Sample Size29084
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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