A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027698



Internal ID18770230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56139927..56190328hg38UCSC Ensembl
Innerchr8:57052486..57102887hg19UCSC Ensembl
Innerchr8:57215040..57265441hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3850402
hg1950402
hg1850402
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7229n100
Supporting Variantsnssv3757277
Samples
Known GenesPLAG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027698
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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