A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3677448



Internal ID18629043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7002128..7368902hg38UCSC Ensembl
Innerchr8:6859650..7226424hg19UCSC Ensembl
Innerchr8:6847060..7213834hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38366775
hg19366775
hg18366775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1017134
Supporting Variants
Samples
Known GenesDEFA1, DEFA11P, DEFA1B, DEFA3, DEFA5, DEFB109P1B, DEFT1P, DEFT1P2, FAM66B, LINC00965, USP17L1P, USP17L4, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3677448
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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