A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017649



Internal ID19106866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55809562..55964201hg38UCSC Ensembl
Innerchr8:56722121..56876760hg19UCSC Ensembl
Innerchr8:56884675..57039314hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38154640
hg19154640
hg18154640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7228n100
Supporting Variantsnssv3757271, nssv3688680
Samples
Known GenesLYN, TGS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017649
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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