A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031222



Internal ID18773755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12130205..12616361hg38UCSC Ensembl
Innerchr8:11987714..12473870hg19UCSC Ensembl
Innerchr8:12025123..12518241hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38486157
hg19486157
hg18493119
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7019n100
Supporting Variantsnssv3681887
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352, LOC729732, USP17L2, USP17L7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031222
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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