A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032213



Internal ID19121435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12545643hg38UCSC Ensembl
Innerchr8:12260915..12403152hg19UCSC Ensembl
Innerchr8:12305286..12447523hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38142238
hg19142238
hg18142238
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7070n100
Supporting Variantsnssv3665948, nssv3665950, nssv3760140, nssv3665954, nssv3760139, nssv3665952, nssv3665961, nssv3665962, nssv3665953, nssv3665960, nssv3665949, nssv3760138, nssv3665963, nssv3665955, nssv3665959, nssv3665957, nssv3665947, nssv3665951, nssv3665958, nssv3665956
Samples
Known GenesFAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032213
Frequency
Sample Size11257
Observed Gain7
Observed Loss13
Observed Complex0
Frequencyn/a


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