A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033361



Internal ID19122583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7002128..7182319hg38UCSC Ensembl
Innerchr8:6859650..7039841hg19UCSC Ensembl
Innerchr8:6847060..7027251hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38180192
hg19180192
hg18180192
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6881n100
Supporting Variantsnssv3753994, nssv3677447
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)nsv1033361
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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