A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028980



Internal ID19118199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6975834..7153553hg38UCSC Ensembl
Innerchr8:6833356..7011075hg19UCSC Ensembl
Innerchr8:6820766..6998485hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38177720
hg19177720
hg18177720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6881n100
Supporting Variantsnssv3677444, nssv3677445
Samples
Known GenesDEFA1, DEFA11P, DEFA1B, DEFA3, DEFA5, DEFT1P, DEFT1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028980
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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