A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030304



Internal ID19119523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12384994..12447135hg38UCSC Ensembl
Innerchr8:12242503..12304644hg19UCSC Ensembl
Innerchr8:12286874..12349015hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3862142
hg1962142
hg1862142
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7057n100
Supporting Variantsnssv3760072
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)nsv1030304
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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