A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017457



Internal ID19106674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12513862hg38UCSC Ensembl
Innerchr8:12232269..12371371hg19UCSC Ensembl
Innerchr8:12276640..12415742hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38139103
hg19139103
hg18139103
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7052n100
Supporting Variantsnssv3682620, nssv3682616, nssv3682614, nssv3682613, nssv3682615, nssv3682617, nssv3754533, nssv3682618, nssv3682619
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)nsv1017457
Frequency
Sample Size11257
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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