A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027527



Internal ID19116746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:69513388..69553598hg38UCSC Ensembl
Innerchr8:70425623..70465833hg19UCSC Ensembl
Innerchr8:70588177..70628387hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3840211
hg1940211
hg1840211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3689510
Samples
Known GenesSULF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027527
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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