A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033554



Internal ID19122775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12387671..12454117hg38UCSC Ensembl
Innerchr8:12245180..12311626hg19UCSC Ensembl
Innerchr8:12289551..12355997hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3866447
hg1966447
hg1866447
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7047n100
Supporting Variantsnssv3665701, nssv3665702, nssv3664957, nssv3665709, nssv3664956, nssv3665704, nssv3760086, nssv3665698, nssv3665700, nssv3665706, nssv3665699, nssv3664959, nssv3665705, nssv3665708, nssv3665703, nssv3664958, nssv3664955, nssv3665707
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033554
Frequency
Sample Size11257
Observed Gain1
Observed Loss17
Observed Complex0
Frequencyn/a


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