A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017950



Internal ID18760483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7894514..7969833hg38UCSC Ensembl
Innerchr8:7752036..7827355hg19UCSC Ensembl
Innerchr8:7789446..7864765hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3875320
hg1975320
hg1875320
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6977n100
Supporting Variantsnssv3681158, nssv3681157, nssv3681159
Samples
Known GenesDEFB4A, FAM66E, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017950
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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