A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027125



Internal ID18769657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56978720..57183325hg38UCSC Ensembl
Innerchr8:57891279..58095884hg19UCSC Ensembl
Innerchr8:58053833..58258438hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38204606
hg19204606
hg18204606
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757278
Samples
Known GenesIMPAD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027125
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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