A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032427



Internal ID19121649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12340600..12505127hg38UCSC Ensembl
Innerchr8:12198109..12362636hg19UCSC Ensembl
Innerchr8:12242480..12407007hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38164528
hg19164528
hg18164528
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7039n100
Supporting Variantsnssv3682088, nssv3682087, nssv3682089, nssv3682086
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)nsv1032427
Frequency
Sample Size11257
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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