A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030401



Internal ID18772932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86165139..86325031hg38UCSC Ensembl
Innerchr8:87177368..87337260hg19UCSC Ensembl
Innerchr8:87246484..87406376hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38159893
hg19159893
hg18159893
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7263n100
Supporting Variantsnssv3689681
Samples
Known GenesSLC7A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030401
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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