A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030054



Internal ID19119273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55237809..55296687hg38UCSC Ensembl
Innerchr8:56150369..56209247hg19UCSC Ensembl
Innerchr8:56312923..56371801hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3858879
hg1958879
hg1858879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7227n100
Supporting Variantsnssv3688675
Samples
Known GenesXKR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030054
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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