A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032827



Internal ID18775361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:122655842..123258160hg38UCSC Ensembl
Innerchr8:123668081..124270400hg19UCSC Ensembl
Innerchr8:123737262..124339581hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38602319
hg19602320
hg18602320
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3691496
Samples
Known GenesC8orf76, DERL1, FAM83A, FAM83A-AS1, MIR4663, TBC1D31, ZHX1, ZHX1-C8ORF76, ZHX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032827
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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