A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027133



Internal ID19116352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7925628..8151670hg38UCSC Ensembl
Innerchr8:7783150..8009192hg19UCSC Ensembl
Innerchr8:7820560..8046602hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38226043
hg19226043
hg18226043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6980n100
Supporting Variantsnssv3681238
Samples
Known GenesDEFB109P1B, FAM66E, MIR548I3, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027133
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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