A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032067



Internal ID19121289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12447135hg38UCSC Ensembl
Innerchr8:12232269..12304644hg19UCSC Ensembl
Innerchr8:12276640..12349015hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3872376
hg1972376
hg1872376
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7047n100
Supporting Variantsnssv3682471, nssv3682477, nssv3754491, nssv3754490, nssv3754488, nssv3682476, nssv3682472, nssv3682475, nssv3682474, nssv3754489, nssv3682473
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)nsv1032067
Frequency
Sample Size11257
Observed Gain8
Observed Loss3
Observed Complex0
Frequencyn/a


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